About 373 results

ALLMedicine™ Congenital Myopathies Center

Research & Reviews  143 results

Molecular basis of impaired muscle function in a mouse model of congenital myopathy due...
The Journal of General Physiology; Ruizl A, Eckhardt J et. al.

Nov 13th, 2021 - Congenital myopathies (CM) are a group of early-onset, genetically diverse muscle disorders of variable severity with characteristic muscle biopsy findings. Mutations in RYR1, the gene encoding the RYR1, are the most common genetic cause, responsi...

RYR1-related myopathies: Expanding the spectrum of morphological presentation.
The Journal of General Physiology; Sorrentino V

Nov 13th, 2021 - Mutations in the RYR1 gene are the most common cause of nondystrophic congenital myopathies. Mutations in RYR1 were initially identified in individuals susceptible to malignant hyperthermia, a pharmacogenetic disorder triggered by volatile anesthe...

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dil...
Neuromuscular Disorders : NMD; Gurgel-Giannetti J, Souza LS et. al.

Nov 8th, 2021 - Congenital myopathies are a heterogeneous group of conditions diagnosed based on the clinical presentation, muscle histopathology and genetic defects. Recessive mutations in the SPEG gene have been described in recent years and are primarily assoc...

Primary mitochondrial myopathies in childhood.
Neuromuscular Disorders : NMD; Olimpio C, Tiet MY et. al.

Nov 6th, 2021 - Primary mitochondrial myopathies are genetic metabolic disorders of mitochondrial dysfunction affecting mainly, but not exclusively, skeletal muscle. Although individually rare, they are the most common inherited metabolic disorders in childhood. ...

An integrated approach to the evaluation of patients with asymptomatic or minimally sym...
Muscle & Nerve; Gemelli C, Traverso M et. al.

Oct 24th, 2021 - Currently, there are no straightforward guidelines for the clinical and diagnostic management of hyperCKemia, a frequent and nonspecific presentation in muscle diseases. Therefore, we aimed to describe our diagnostic workflow for evaluating patien...

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Clinicaltrials.gov  4 results

Bullying in Youth With Muscular Dystrophy and Congenital Myopathies

Feb 2nd, 2021 - Bullying is an epidemic in Canada. At least one in three Canadian youth report having been bullied. Bullying is defined as intentional aggressive behaviour with the intention to harm the victim. It is characterized by an imbalance of power between...

A Pilot Study of Pyridostigmine in Pompe Disease

May 15th, 2018 - Pompe is a rare disease, which occurs in approximately 1 per 40,000 births. It is a progressive and often fatal neuromuscular disorder resulting from mutation in the gene for acid alpha-glucosidase (GAA), an enzyme necessary to degrade glycogen. A...

Aerobic Training in Patients With Congenital Myopathies

May 12th, 2015 - 10 weeks of cycle-ergometer training at home. Intensity at 70% of maximal VO2,max.

National Registry for Egyptian Pediatric Neuromuscular Diseases

Apr 28th, 2014 - Aims: An open-ended multi-center, national Egyptian study to collect and analyze data for children with Neuromuscular Diseases (NMD) inherited NMD (spinal muscular atrophy (SMA), Duchenne/Becker and congenital muscular dystrophies (DMD/BMD, CMD), ...

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News  1 results

Targeted Treatments for Inherited Neuromuscular Diseases of Childhood

Abstract and Introduction Abstract In the past decade, the number of genes linked to neuromuscular diseases of childhood has expanded dramatically, and this genetic information is forming the basis for gene-specific and even mutation-specific ther...

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Patient Education  1 results see all →