Myology research highlights
RSS feedRescue of dystrophin expression and recovery of the conduction system in the heart of dystrophic dogs by PPMO-mediated multiexon skipping
Duchenne muscular dystrophy (DMD) is a lethal genetic disorder caused by an absence of the dystrophin protein in bodywide muscles, including the heart. Cardiomyopathy is a leading cause of death in DMD. Exon skipping via synthetic phosphorodiamidate morpholino oligomers (PMOs) represents one of the most promising therapeutic options, yet PMOs have shown very little … [Read more]
Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A)
Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. This case comprises neurological, ophthalmological, internal medicine and … [Read more]
HyperCKemia is a common presentation of ANO5-related myopathy
Patients with ANO5 mutations may present not only limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. In this study, data from 38 patients in France with ANO5 mutations with and without muscle weakness on first examination were compared. The authors found that creatine kinase … [Read more]
Disease impact on quality of life and therapeutic expectations of European Type II and Type III SMA patients
Spinal muscular atrophy (SMA) is a neurodegenerative disorder showing a broad clinical spectrum and no cure to date. To design and select evaluation criteria for the potential assessment of drugs currently being developed, the patient’s perspective is critical. A survey, aiming to obtain a view on the current clinical state of European Type II … [Read more]
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool
Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that clinical outcome assessments are ‘fit for purpose’. An international collaboration (SMA REACH UK, Italian SMA Network and PNCRN USA) undertook an iterative process to address discontinuity in the recorded performance of the Hammersmith Functional Motor Scale … [Read more]
VAMP1 mutations cause a presynaptic congenital myasthenic syndrome
This study reports 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is required for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low compound muscle action … [Read more]
Systemic AAV8-mediated gene therapy corrects the severe generalised muscle disease in myotubularin-deficient dogs
X-linked myotubular myopathy (XLMTM) results from MTM1 gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to respiratory failure and death, typically within 2 years of age. This study aimed to evaluate the efficacy and safety of systemic gene therapy in the p.N155K canine model of XLMTM by performing a … [Read more]
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the physiopathology. To identify novel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous families. The authors identified two … [Read more]
Pompe disease: new phase 3 clinical trial of neoGAA
NeoGAA, a new generation of enzymotherapy developed by Sanofi Genzyme, will be tested in 96 patients with type 2 glycogenosis (Pompe disease). Recruitment of this trial is underway. This international trial will be conducted in more than 20 different countries. In France, Reference Centres for “Neuromuscular Diseases” in Nice, Paris, Lille, Lyon, Marseilles, Bordeaux and … [Read more]
Pregnancy and delivery in women with spinal muscular atrophy
OBJECTIVES: To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy (SMA) using a cohort of genetically proven SMA patients from USA. METHODS: This was a cross-sectional questionnaire-based study. The authors mailed questionnaires to 58 women with confirmed SMA. RESULTS: Thirty-two women responded, reporting 35 pregnancies, including 19 women … [Read more]
