3,153 results match your criteria Congenital Muscular Dystrophy


Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Am J Med Genet A 2018 Dec 18. Epub 2018 Dec 18.

Division of Neuromuscular and Neurodegenerative Disorders, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy.

Kyphoscoliotic Ehlers-Danlos syndrome associated with FKBP14 (FKBP14-kEDS) is an ultrarare autosomal recessive disorder reported in less than 30 individuals so far. In its original description, emphasis was put on the mild muscle involvement. Further reports confirm that FKBP14-kEDS is distinguishable from primary muscle disorders by the lack of progressive muscle disease. Read More

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http://dx.doi.org/10.1002/ajmg.a.61006DOI Listing
December 2018

LARGE expression in different types of muscular dystrophies other than dystroglycanopathy.

BMC Neurol 2018 Dec 15;18(1):207. Epub 2018 Dec 15.

Department of Medical Biology, Hacettepe University Faculty of Medicine, 06100 Sihhiye, Ankara, Turkey.

Background: Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses. An important enzyme, known as Like-acetylglucosaminyltransferase (LARGE), has been shown to transfer repeating units of -glucuronic acid-β1,3-xylose-α1,3- (matriglycan) to αDG that is required for functional receptor as an extracellular matrix protein scaffold. The reduction in the amount of LARGE-dependent matriglycan result in heterogeneous forms of dystroglycanopathy that is associated with hypoglycosylation of αDG and a consequent lack of ligand-binding activity. Read More

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https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-
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http://dx.doi.org/10.1186/s12883-018-1207-0DOI Listing
December 2018
1 Read

Targeted next generation sequencing reveals novel splice site mutations in gene in a patient with congenital muscular dystrophy.

Neurol India 2018 Nov-Dec;66(6):1812-1814

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Telangana, India.

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http://dx.doi.org/10.4103/0028-3886.246266DOI Listing
December 2018

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

J Neurol 2018 Dec 4. Epub 2018 Dec 4.

Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.

Objective: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants in the PYROXD1 gene, which has been recently linked to early-onset congenital myofibrillar myopathy.

Methods: Whole exome sequencing was performed for adult-onset neuromuscular disease patients with no molecular diagnosis. Patients with PYROXD1 variants underwent clinical characterization, lower limb muscle MRI, muscle biopsy and spirometry. Read More

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http://link.springer.com/10.1007/s00415-018-9137-8
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http://dx.doi.org/10.1007/s00415-018-9137-8DOI Listing
December 2018
8 Reads
3.380 Impact Factor

Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies.

Comp Med 2018 Nov 28. Epub 2018 Nov 28.

Here we report a case of severe growth retardation and neurologic abnormalities in a female gray mouse lemur (Microcebusmurinus), a small NHP species for which the genomic sequence recently became available. The female lemur we present heredied on postnatal day 125. This lemur had impaired development of motor skills and showed severe ataxia and tremors. Read More

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http://dx.doi.org/10.30802/AALAS-CM-18-000019DOI Listing
November 2018

Emergency room visits and admission rates of children with neuromuscular disorders: A 10-year experience in a medical center in Taiwan.

Pediatr Neonatol 2018 Oct 2. Epub 2018 Oct 2.

Division of Pediatric Emergency, Department of Emergency, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Ph.D. Program in Translational Medicine, Graduate Institute of Clinical Medicine, 18 Kaohsiung Medical University and Academia Sinica, Taiwan; Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. Electronic address:

Background: No previous studies have explored emergency medical care for children with chronic neuromuscular disorders (NMDs). We aimed to determine the major reasons for the emergency room (ER) readmission of pediatric patients with NMDs and suggest changes to the care plan to decrease readmissions.

Methods: Children with chronic NMDs (aged <18 years) who visited a medical center-based ER between January 2005 and January 2015 were included. Read More

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http://dx.doi.org/10.1016/j.pedneo.2018.09.008DOI Listing
October 2018
2 Reads
0.880 Impact Factor

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.

Mutat Res 2018 Oct - Dec;778:45-50. Epub 2018 Sep 12.

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, PR China. Electronic address:

Protein O-mannosyltransferase 1 (POMT1) is a critical enzyme participating in the first step of protein O-mannosylation. Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). MDDGs are characterized by a broad phenotypic spectrum of congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy, accompanied by variable degrees of intellectual disability, brain defects, and ocular abnormalities. Read More

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http://dx.doi.org/10.1016/j.mrrev.2018.09.002DOI Listing
September 2018
2 Reads

Exploratory Profiling of Urine MicroRNAs in the Mouse Model of LAMA2-CMD: Relation to Disease Progression.

PLoS Curr 2018 Aug 27;10. Epub 2018 Aug 27.

Integrative Biology and Physiology, University of California, Los Angeles, California, United States.

Circulating microRNAs (miRNAs) are being considered as non-invasive biomarkers for disease progression and clinical trials. Congenital muscular dystrophy with deficiency of laminin α2 chain (LAMA2-CMD) is a very severe form of muscular dystrophy, for which no treatment is available. In order to identify LAMA2-CMD biomarkers we have profiled miRNAs in urine from the / mouse model of LAMA2-CMD at three distinct time points (representing asymptomatic, initial and established disease). Read More

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https://dx.plos.org/10.1371/currents.md.d0c203c018bc024f2f4c
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http://dx.doi.org/10.1371/currents.md.d0c203c018bc024f2f4c9791ecb05f88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140833PMC
August 2018
3 Reads

Cervical hyperextension deformity following sagittal balance correction in a patient with Congenital Limb Girdle Myopathy: Surgical technique and review of the literature.

World Neurosurg 2018 Nov 8. Epub 2018 Nov 8.

- Neurosurgery department, Hotel Dieu de France Hospital Beirut, Lebanon. Electronic address:

Background: There is no gold standard surgical treatment for cervical hyperextension deformity especially in case of muscular dystrophy. Special considerations and caution should be taken as they carry high risk of early mortality and spinal cord injury. Only a few case reports are available in the literature. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.10.211DOI Listing
November 2018
1 Read

Needle Electromyography and Histopathologic Correlation in Myopathies.

Muscle Nerve 2018 Nov 10. Epub 2018 Nov 10.

Mayo Clinic in Jacksonville, FL.

Introduction: Needle electromyography (EMG) findings help confirm myopathy and may indicate specific pathologic changes on muscle biopsy.

Methods: Retrospective chart review of 218 consecutive patients referred for muscle biopsy. Presence of specific needle EMG findings was correlated to pathologic findings of inflammation, necrosis, splitting, and vacuolar changes. Read More

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http://dx.doi.org/10.1002/mus.26381DOI Listing
November 2018
1 Read

Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic Mutations.

Front Physiol 2018 15;9:1332. Epub 2018 Oct 15.

Department of Cell and Developmental Biology, University College London, London, United Kingdom.

Laminopathies are a clinically heterogeneous group of disorders caused by mutations in . The main proteins encoded by are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the inner nuclear membrane. Laminopathies show striking tissue specificity, with subtypes affecting striated muscle, peripheral nerve, and adipose tissue, while others cause multisystem disease with accelerated aging. Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01332
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http://dx.doi.org/10.3389/fphys.2018.01332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201196PMC
October 2018
3 Reads

Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study.

Sci Rep 2018 Nov 2;8(1):16302. Epub 2018 Nov 2.

Unit of Muscle Biology, Department of Experimental Medical Science, Lund University, Lund, Sweden.

Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe muscle disorder with complex underlying pathogenesis. We have previously employed profiling techniques to elucidate molecular patterns and demonstrated significant metabolic impairment in skeletal muscle from LAMA2-CMD patients and mouse models. Thus, we hypothesize that skeletal muscle metabolism may be a promising pharmacological target to improve muscle function in LAMA2-CMD. Read More

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http://dx.doi.org/10.1038/s41598-018-34362-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214987PMC
November 2018

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.

Neurotherapeutics 2018 Oct;15(4):872-884

Department of Neurology, The Ohio State University, 395 West 12th Avenue, Columbus, OH, 43210, USA.

Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and type 2 is caused by a CCTG repeat expansion in the CNBP gene. Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results in different phenotypic subtypes with variable onset from congenital to very late-onset as well as variable signs and symptoms. Read More

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http://link.springer.com/10.1007/s13311-018-00679-z
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http://dx.doi.org/10.1007/s13311-018-00679-zDOI Listing
October 2018
15 Reads

Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts.

Cell Death Dis 2018 Oct 19;9(11):1071. Epub 2018 Oct 19.

Institute of Biophysics (IBF), CNR, Pisa, Italy.

Congenital myotonic dystrophy type 1 (CDM1) is characterized by severe symptoms that affect patients from birth, with 40% mortality in the neonatal period and impaired skeletal muscle development. In this paper, we examined the relationship between autophagy and abnormal myogenic differentiation of CDM1 myoblasts. We investigated these pathological features at both ultrastructural and molecular levels, utilizing two CDM1 foetal myoblasts, CDM13 and CDM15, with 1800 and 3200 repeats, respectively. Read More

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http://www.nature.com/articles/s41419-018-1080-1
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http://dx.doi.org/10.1038/s41419-018-1080-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195593PMC
October 2018
5 Reads

Commentary on "Stepping Activity in Children With Congenital Myotonic Dystrophy".

Pediatr Phys Ther 2018 10;30(4):340

Department of Pediatrics, University of Massachusetts Medical School Worcester, Massachusetts School of Health and Rehabilitation Sciences, MGH Institute of Health Professions Boston, Massachusetts.

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http://dx.doi.org/10.1097/PEP.0000000000000545DOI Listing
October 2018

Birth Anomalies in Monozygotic and Dizygotic Twins: Results From the California Twin Registry.

J Epidemiol 2018 Sep 29. Epub 2018 Sep 29.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California.

Background: Inherited factors and maternal behaviors are thought to play an important role in the etiology of several congenital malformations. Twin studies can offer additional evidence regarding the contribution of genetic and lifestyle factors to common birth anomalies, but few large-scale studies have been reported.

Methods: We included data from twins (20,803 pairs) from the population-based California Twin Program. Read More

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https://www.jstage.jst.go.jp/article/jea/advpub/0/advpub_JE2
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http://dx.doi.org/10.2188/jea.JE20170159DOI Listing
September 2018
3 Reads

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Orphanet J Rare Dis 2018 Sep 26;13(1):170. Epub 2018 Sep 26.

Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit and Child Neurology, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56018, Pisa, Italy.

Background: Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes. Read More

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http://dx.doi.org/10.1186/s13023-018-0863-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158856PMC
September 2018
5 Reads

National registry of patients with Fukuyama congenital muscular dystrophy in Japan.

Neuromuscul Disord 2018 Oct 10;28(10):885-893. Epub 2018 Aug 10.

Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan; The Japan Muscular Dystrophy Association, Tokyo, Japan.

Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. In 2011, the Japan Muscular Dystrophy Association (JMDA) developed a nationwide registry of genetically confirmed patients with FCMD. We retrospectively reviewed the registry dataset of patients with FCMD to obtain data, including age, sex, developmental milestones, intellectual level, complications, and primary treatments. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.08.001DOI Listing
October 2018
1 Read
2.640 Impact Factor

[Clinical features and FKRP mutations of congenital muscular dystrophy 1C].

Zhongguo Dang Dai Er Ke Za Zhi 2018 Sep;20(9):765-768

Department of Pediatrics, Union Hospital Affiliated to Fujian Medical University, Fuzhou 350001, China.

Congenital muscular dystrophy type 1C (MDC1C) is caused by the homozygous or compound heterozygous mutations of the FKRP gene. This article reported the clinical and mutation features of a child with MDC1C. The boy aged 8 months visited the hospital due to delayed development. Read More

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September 2018
4 Reads

Myofibrillar myopathy in the genomic context.

J Appl Genet 2018 Nov 10;59(4):431-439. Epub 2018 Sep 10.

Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawinskiego St., 02-106, Warsaw, Poland.

Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity and overlapping symptoms. In addition, precise diagnosis does not always explain the disease etiopathology or the highly variable clinical course even among patients diagnosed with the same type of myopathy. Read More

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http://dx.doi.org/10.1007/s13353-018-0463-4DOI Listing
November 2018
2 Reads

Characteristic findings of skeletal muscle MRI in caveolinopathies.

Neuromuscul Disord 2018 Oct 31;28(10):857-862. Epub 2018 Jul 31.

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. Electronic address:

Caveolinopathies, caused by CAV3 mutations, can include several phenotypes such as rippling muscle disease, limb-girdle muscular dystrophy type 1C, distal myopathy, familial hypertrophic cardiomyopathy, and idiopathic hyperCKemia. Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patient with congenital generalized lipodystrophy type 4 with muscular dystrophy due to polymerase I and transcript release factor (PTRF) mutations, which may have caused secondary deficiency of caveolin-3. Muscle MRI revealed that the rectus femoris and semitendinosus muscles were most commonly affected in the rippling muscle disease patients. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.07.010DOI Listing
October 2018
3 Reads
2.640 Impact Factor

Exon Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy.

Methods Mol Biol 2018 ;1828:553-564

Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.

Phosphorodiamidate morpholino oligomer (PMO)-mediated exon skipping is among the more promising approaches available for the treatment of several neuromuscular disorders, including Duchenne muscular dystrophy. The main weakness of this treatment arises from the low efficiency and sporadic nature of delivery of the neutrally charged PMO into muscle fibers, the mechanism of which is unknown.Recently, using wild-type and dystrophic mdx52 mice, we showed that muscle fibers took up PMO more efficiently during myotube formation. Read More

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http://link.springer.com/10.1007/978-1-4939-8651-4_36
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http://dx.doi.org/10.1007/978-1-4939-8651-4_36DOI Listing
January 2018
7 Reads

Restoration of Dystrophin Protein Expression by Exon Skipping Utilizing CRISPR-Cas9 in Myoblasts Derived from DMD Patient iPS Cells.

Methods Mol Biol 2018 ;1828:191-217

Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.

Duchenne muscular dystrophy (DMD) is a congenital X-linked disease caused by mutations in the gene encoding the dystrophin protein, which is required for myofiber integrity. Exon skipping therapy is an emerging strategy for restoring the open reading frame of the dystrophin gene to produce functional protein in DMD patients by skipping single or multiple exons. Although antisense oligonucleotides are able to target pre-mRNA for exon skipping, their half-lives are short and any therapeutic benefit is transient. Read More

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http://link.springer.com/10.1007/978-1-4939-8651-4_12
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http://dx.doi.org/10.1007/978-1-4939-8651-4_12DOI Listing
January 2018
16 Reads

Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.

Methods Mol Biol 2018 ;1828:79-90

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Antisense-mediated exon skipping and exon inclusion have proven to be powerful tools for treating neuromuscular diseases. The approval of Exondys 51 (eteplirsen) and Spinraza (nusinersen) for the treatment of patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) was the most noteworthy accomplishment in 2016. Exon skipping uses short DNA-like molecules called antisense oligonucleotides (AONs) to correct the disrupted reading frame, allowing the production of functional quasi-dystrophin proteins, and ameliorate the progression of the disease. Read More

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http://dx.doi.org/10.1007/978-1-4939-8651-4_5DOI Listing
January 2018

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

Methods Mol Biol 2018 ;1828:31-55

Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada.

Exon skipping is a therapeutic approach that is feasible for various genetic diseases and has been studied and developed for over two decades. This approach uses antisense oligonucleotides (AON) to modify the splicing of pre-mRNA to correct the mutation responsible for a disease, or to suppress a particular gene expression, as in allergic diseases. Antisense-mediated exon skipping is most extensively studied in Duchenne muscular dystrophy (DMD) and has developed from in vitro proof-of-concept studies to clinical trials targeting various single exons such as exon 45 (casimersen), exon 53 (NS-065/NCNP-01, golodirsen), and exon 51 (eteplirsen). Read More

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http://dx.doi.org/10.1007/978-1-4939-8651-4_2DOI Listing
January 2018
2 Reads

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Hum Mutat 2018 Dec 11;39(12):1980-1994. Epub 2018 Oct 11.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.

SH3 and cysteine-rich domain-containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. Here, we report 18 patients carrying a homozygous p.(Trp284Ser) STAC3 variant in addition to a patient compound heterozygous for the p. Read More

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http://doi.wiley.com/10.1002/humu.23635
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http://dx.doi.org/10.1002/humu.23635DOI Listing
December 2018
5 Reads

Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice.

Nat Commun 2018 08 27;9(1):3448. Epub 2018 Aug 27.

McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, Charlotte, NC, 28203, USA.

O-mannosylated α-dystroglycan (α-DG) serves as receptors for cell-cell and cell-extracellular matrix adhesion and signaling. Hypoglycosylation of α-DG is involved in cancer progression and underlies dystroglycanopathy with aberrant neuronal development. Here we report that ribitol, a pentose alcohol with previously unknown function in mammalian cells, partially restores functional O-mannosylation of α-DG (F-α-DG) in the dystroglycanopathy model containing a P448L mutation in fukutin-related protein (FKRP) gene, which is clinically associated with severe congenital muscular dystrophy. Read More

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http://www.nature.com/articles/s41467-018-05990-z
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http://dx.doi.org/10.1038/s41467-018-05990-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110760PMC
August 2018
6 Reads

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient.

Case Rep Genet 2018 25;2018:3028145. Epub 2018 Jul 25.

Laboratory of Genomic Diagnostics, Center of Molecular Medicine, Department of Medical Chemistry and Biochemistry, Medical University Sofia, Zdrave Str. 2, 1431 Sofia, Bulgaria.

Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. The most common form worldwide is considered to be merosin-deficient muscle dystrophy type 1A, called MDC1A (due to laminin-2 defects as a result of gene mutation), accounting for 30-40% of total cases of CMD. The exact molecular and clinical diagnoses, respectively, are a prerequisite for the most effective treatment; sometimes orphan drugs exist for some rare diseases. Read More

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http://dx.doi.org/10.1155/2018/3028145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083551PMC
July 2018
1 Read

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.

Neuromuscul Disord 2018 Nov 19;28(11):956-960. Epub 2018 Jul 19.

Department of Translational Medical Sciences, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. Electronic address:

Alpha-dystroglycanopathies are a group of progressive and untreatable neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. We describe the effects of a short-term cycle of corticosteroid therapy in a 9-year-old boy, affected by an alpha-dystroglycanopathy due to GMPPB gene mutations. The patient was affected by a congenital progressive muscular dystrophy since the first month of life, associated with psychomotor delay, seizures, and congenital bilateral cataracts. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183050
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http://dx.doi.org/10.1016/j.nmd.2018.07.001DOI Listing
November 2018
9 Reads

Prediction of postnatal developmental disabilities using the antenatal fetal neurodevelopmental test: KANET assessment.

J Perinat Med 2018 Aug 11. Epub 2018 Aug 11.

Department of Pediatrics, Kagawa University Graduate School of Medicine, Miki, Kagawa, Japan.

Objective To assess the usefulness of the antenatal fetal neurodevelopmental test for the prediction of postnatal developmental disabilities. Methods Fetal behavior was assessed with Kurjak's antenatal neurodevelopmental test (KANET) using four-dimensional ultrasound between 28 and 38 weeks of gestation. A score range of 0-5 was characterized as abnormal, from 6 to 9 was considered borderline, and 10-16 was normal. Read More

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http://dx.doi.org/10.1515/jpm-2018-0169DOI Listing
August 2018
7 Reads

Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial.

Neuromuscul Disord 2018 Sep 1;28(9):731-740. Epub 2018 Jul 1.

Pediatric noninvasive ventilation and sleep unit, Necker university hospital, AP-HP, 149 rue de Sèvres, 75015 Paris, France; ASV Santé, Gennevilliers, France.

Congenital muscular dystrophies and congenital myopathies represent a heterogeneous group of disorders of the muscle characterized by an early onset of hypotonia and muscle weakness and consequently, a high respiratory morbidity and mortality. The diagnosis and characterization of the weakness of the respiratory muscles is crucial for clinical management of patients and the evaluation of innovative therapies. Routine respiratory evaluation is based on noninvasive volitional tests, such as the measurement of lung volumes, spirometry, and maximal static pressures, which may be difficult or impossible to obtain in young children. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183012
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http://dx.doi.org/10.1016/j.nmd.2018.06.013DOI Listing
September 2018
5 Reads

A novel mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Hum Genome Var 2018 20;5:19. Epub 2018 Jul 20.

2Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular diagnosis in a Japanese girl with L-CMD. Read More

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http://dx.doi.org/10.1038/s41439-018-0018-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054619PMC

Renal dysfunction is rare in Fukuyama congenital muscular dystrophy.

Brain Dev 2019 Jan 1;41(1):43-49. Epub 2018 Aug 1.

Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Tokyo, Japan.

Background: The leading cause of death in patients with Fukuyama congenital muscular dystrophy (FCMD) is congestive heart failure or respiratory dysfunction, which is same as that in Duchenne muscular dystrophy (DMD). Recent studies reported that renal dysfunction is a common complication and an increasing cause of death in advanced DMD. It can be attributable to circulatory instability or inappropriate use of drugs for treating cardiac dysfunction. Read More

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http://dx.doi.org/10.1016/j.braindev.2018.07.012DOI Listing
January 2019
1 Read

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

Muscle Nerve 2018 Dec 18;58(6):812-817. Epub 2018 Nov 18.

APHP, Neuromuscular Disorders Unit, Pediatric Department, CHU Paris IdF Ouest - Hôpital Raymond Poincaré, Paris Saclay Universities, UVSQ University of Versailles, UMR 1179 INSERM, Garches, France.

Introduction: Particular fibroadipose infiltration patterns have been recently described by muscle imaging in congenital and later onset forms of LMNA-related muscular dystrophies (LMNA-RD).

Methods: Scores for fibroadipose infiltration of 23 lower limb muscles in 34 patients with LMNA-RD were collected from heat maps of 2 previous studies. Scoring systems were homogenized. Read More

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http://doi.wiley.com/10.1002/mus.26312
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http://dx.doi.org/10.1002/mus.26312DOI Listing
December 2018
8 Reads

Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.

Acta Myol 2018 Jun 1;37(2):121-127. Epub 2018 Jun 1.

Department of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.

Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy resequencing methodology in the diagnostic regime for muscular dystrophy cases. Here we report a 54-year-old female with a rare histological myopathy presentation of co-occurring cores and rods. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060425PMC

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Hum Mutat 2018 Oct 10;39(10):1314-1337. Epub 2018 Aug 10.

Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.

Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. Read More

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http://dx.doi.org/10.1002/humu.23599DOI Listing
October 2018
9 Reads

Impacts for Children Living with Genetic Muscle Disorders and their Parents - Findings from a Population-Based Study.

J Neuromuscul Dis 2018;5(3):341-352

National Institute for Stroke and Applied Neurosciences, School of Public Health and Psychosocial Studies, Faculty of Health and Environmental Studies, Auckland University of Technology, Auckland, New Zealand.

Background: Genetic muscle disorders, including muscular dystrophies, congenital myopathies, and ion channel muscle diseases can be associated with significant disability.

Objective: This study aimed to explore child and parent perspectives of the impact of living with a genetic muscle disorder.

Methods: Eighty-three children (<16 years) with a clinical or molecular diagnosis were identified as part of a national prevalence study. Read More

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http://dx.doi.org/10.3233/JND-170287DOI Listing
November 2018

A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.

Neuromuscul Disord 2018 Aug 20;28(8):671-674. Epub 2018 Jun 20.

Sozialpädiatrisches Zentrum Frankfurt Mitte, Epilepsieambulanz - Neuromuskuläres Zentrum, Theobald-Christ-Str. 16, 60316 Frankfurt am Main, Germany.

Dystroglycanopathies are a diverse group of neuromuscular disorders caused by aberrant glycosylation of alpha-dystroglycan. TMEM5 is one of many glycosyltransferases recently described to be associated with alpha-dystroglycanopathies. We report the case of a 15-year-old boy suffering from a congenital muscular dystrophy with elevated serum creatine kinase levels and an almost complete absence of alpha-dystroglycan in muscle biopsy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183010
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http://dx.doi.org/10.1016/j.nmd.2018.06.006DOI Listing
August 2018
6 Reads

Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy.

J Neuromuscul Dis 2018;5(3):331-340

Division of Pediatric Neurology, Children's Hospital London Health Science Centre London, ON, Canada.

Background: Congenital myotonic dystrophy (CDM) is the neonatal onset and most severe presentation of Myotonic Dystrophy type 1. Since it first description, perinatal complications have been detailed including prolonged hospital stay, respiratory and feeding therapy during the neonatal period, although long-term complications are less documented.

Objective: Present a prospective cohort of CDM and compare it to the literature of other CDM case series, to adequately describe and contrast the prenatal, neonatal and infancy features of CDM. Read More

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http://dx.doi.org/10.3233/JND-170277DOI Listing
November 2018
1 Read

[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance].

Rev Chil Pediatr 2018 Jun;89(3):399-408

Programa Enfermedades Neuromusculares y Trastornos Motores, Departamento de Neurología Pediátrica, Clínica Las Condes, Santiago, Chile.

Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Read More

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http://dx.doi.org/10.4067/S0370-41062018005000305DOI Listing
June 2018
16 Reads

PTPα is required for laminin-2-induced Fyn-Akt signaling to drive oligodendrocyte differentiation.

J Cell Sci 2018 Aug 6;131(15). Epub 2018 Aug 6.

Department of Pediatrics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada

Extrinsic signals that regulate oligodendrocyte maturation and subsequent myelination are essential for central nervous system development and regeneration. Deficiency in the extracellular factor laminin-2 (Lm2, comprising the α2β1γ1 chains), as occurs in congenital muscular dystrophy, can lead to impaired oligodendroglial development and aberrant myelination, but many aspects of Lm2-regulated oligodendroglial signaling and differentiation remain undefined. We show that receptor-like protein tyrosine phosphatase α (PTPα, also known as PTPRA) is essential for myelin basic protein expression and cell spreading during Lm2-induced oligodendrocyte differentiation. Read More

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http://dx.doi.org/10.1242/jcs.212076DOI Listing

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Neurology 2018 Aug 6;91(6):e562-e570. Epub 2018 Jul 6.

From the Department of Neurology (K.M., N.C.V., B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Nijmegen; Departments of Human Genetics (R.J.L.F.L., P.J.v.d.V., M.L.v.d.B., S.M.v.d.M.), Clinical Genetics (M.K.), and Neurology (U.A.B.), Leiden University Medical Center, Leiden, the Netherlands; Department of Pediatrics (J.M.G.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Medical Genetics (A.E.L.), MassGeneral Hospital for Children, Boston, MA; Center for Genomic Medicine and Department of Neurology (H.B.), Massachusetts General Hospital, Boston; Department of Pathology (S.A.M.), University of Iowa Hospitals and Clinics, Iowa City; The John Walton Muscular Dystrophy Research Centre (K.J., T.E., A.T., V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Neuromuscular Consult Unit (S.K.G.), Bilbo-Basurtu Erakunde Sanitario Integratua, Organización Sanitaria Integrada Bilbao-Basurto, Spain; Centre de Référence des Maladies Neuromusculaires (S.S.), Nice, France; Department of Neurology (R.T.), University of Rochester Medical Center, NY; Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and National Institute of Environmental Health Sciences (N.D.S.), Research Triangle Park, NC.

Objective: To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the gene, might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction.

Methods: We examined and/or interviewed 14 patients with FSHD2 and 4 unaffected family members with N-terminal pathogenic missense variants to identify BAMS subphenotypes.

Results: None of the patients with FSHD2 or family members demonstrated any congenital defects or dysmorphic features commonly found in patients with BAMS. Read More

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http://dx.doi.org/10.1212/WNL.0000000000005958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105048PMC
August 2018
12 Reads

[Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable].

Nervenarzt 2018 Jul 4. Epub 2018 Jul 4.

Klinik für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Köln, Köln, Deutschland.

The congenital myasthenic syndromes (CMS) represent a heterogeneous group of diseases with a broad spectrum of phenotypes. The common characteristic is an inherited genetic defect of the neuromuscular junction. Although in some patients the specific gene defect remains to be detected, the increasing identification of causative genes in recent years has already provided unique insights into the functionality of structural proteins at the neuromuscular junction. Read More

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http://dx.doi.org/10.1007/s00115-018-0562-9DOI Listing
July 2018
5 Reads

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Neuromuscul Disord 2018 Aug 17;28(8):625-632. Epub 2018 May 17.

Department of Neurology, University Hospital "Alexandrovska", Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

Mutations in TCAP gene cause autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and hypertrophic cardiomyopathy. We studied 18 affected individuals from 12 pedigrees, belonging to a Bulgarian Muslim minority from the South-West of Bulgaria, homozygous for the c.75G>A, p. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.05.005DOI Listing
August 2018
9 Reads
2.640 Impact Factor

ISCEV extended protocol for the photopic On-Off ERG.

Doc Ophthalmol 2018 Jun 22. Epub 2018 Jun 22.

Department of Electrophysiology, Moorfields Eye Hospital, London, UK.

The International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum procedure, but encourages more extensive testing. This ISCEV extended protocol describes an extension to the ERG standard, namely the photopic On-Off ERG, and outlines common clinical applications. A light stimulus duration of 150-200 ms is used in the presence of a rod-suppressing background to elicit cone-driven On- and Off-system ERG components. Read More

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http://dx.doi.org/10.1007/s10633-018-9645-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061123PMC
June 2018
6 Reads

Extracellular matrix-driven congenital muscular dystrophies.

Matrix Biol 2018 Oct 19;71-72:188-204. Epub 2018 Jun 19.

Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, United States of America. Electronic address:

Skeletal muscle function relies on the myofibrillar apparatus inside myofibers as well as an intact extracellular matrix surrounding each myofiber. Muscle extracellular matrix (ECM) plays several roles including but not limited to force transmission, regulation of growth factors and inflammatory responses, and influencing muscle stem cell (i.e. Read More

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http://dx.doi.org/10.1016/j.matbio.2018.06.005DOI Listing
October 2018
7 Reads

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.

Hum Mol Genet 2018 Sep;27(18):3218-3232

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.

Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other genes downstream of this pathway cause congenital myasthenic syndrome (CMS) characterized by fatigable muscle weakness owing to impaired neurotransmission. The precise pathomechanisms at the neuromuscular junction (NMJ) owing to a deficiency in GFPT1 is yet to be discovered. Read More

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https://academic.oup.com/hmg/article/27/18/3218/5037908
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http://dx.doi.org/10.1093/hmg/ddy225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121184PMC
September 2018
11 Reads

Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy.

Muscle Nerve 2018 Sep;58(3):413-417

Department of Neurology, University of Utah, 15 North 2030 East, EIHG 2260, Salt Lake City, Utah, 84112, USA.

Introduction: Herein we present an exploratory study of orofacial function in children with congenital myotonic dystrophy (CDM) vs. healthy controls.

Methods: We evaluated 41 children with CDM and 29 healthy controls for speech and swallow function and for lingual and labial strength. Read More

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http://dx.doi.org/10.1002/mus.26176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131032PMC
September 2018
14 Reads

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies.

Nucleus 2018 ;9(1):398-409

a Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit , Fondazione IRCCS Istituto Neurologico "Carlo Besta" , Milan , Italy.

Laminopathies are a heterogeneous group of diseases, caused by mutations in lamin A/C proteins. The most common laminopathy (LMNA-related myopathies, LMNA-RM) affects skeletal and cardiac muscles; muscle histopathology is variable, ranging from mild unspecific changes to dystrophic features, sometimes with inflammatory evidence. Whether the genetic defect might activate innate immune components, leading to chronic inflammation, myofiber necrosis and fibrosis, is still unknown. Read More

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http://dx.doi.org/10.1080/19491034.2018.1471947DOI Listing
January 2018
1 Read

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.

Gene 2018 Sep 9;672:165-171. Epub 2018 Jun 9.

Research Centre for Medical Genetics, Moscow 115478, Russia; Moscow Institute of Physics and Technology, Dolgoprudny 141701, Russia. Electronic address:

Here we present a case report of collagen VI related myopathy in a patient, 8 y.o. boy, with intermediate phenotype between severe Ullrich congenital muscular dystrophy and milder Bethlem myopathy. Read More

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http://dx.doi.org/10.1016/j.gene.2018.06.026DOI Listing
September 2018
2 Reads