OBJECTIVE To detect and characterise enterovirus RNA in skeletal muscle from patients with chronic fatigue syndrome (CFS) and to compare efficiency of muscle energy metabolism in enterovirus positive and negative CFS patients. METHODS Quadriceps muscle biopsy samples from 48 patients with CFS were processed to detect enterovirus RNA by two stage, reverse transcription, nested polymerase chain...

Chronic progressive external ophthalmoplegia is one of mitochondrial disorders, characterized by ptosis, limitation of eye movement, variably severe bulbar muscle weakness and proximal limb weakness. Chronic progressive external ophthalmoplegia complicated with acquired disease is extremely rare. We report a 44 years old male patient with more than 20 years of chronic progressive bilateral ptos...

X-linked myotubular myopathy due to mutations in the MTM1 gene is classically characterized by a severe neonatal phenotype and a typical muscle biopsy presenting globular and centrally located nuclei in muscle myofibers. Recently, four patients with mild late-onset form have been described, a male with a hemizygous mutation and three females with heterozygous mutations in the MTM1 gene. The mus...

Prevention is essential for avoiding the complications of muscle hematomas (pseudotumors, compartment syndromesand peripheral nerve lesions) in hemophilic patients. This is achieved through early diagnosis of muscle hematomasand proper long-term hematological treatment until they have resolved (confirmed by image studies). Ultrasound-guidedpercutaneous drainage could be benefi...

Background To describe the clinical, pathological, and molecular characteristics of late-onset (LO) dysferlinopathy patients. Methods Retrospective series patients with LO dysferlinopathy, defined by an age at onset symptoms ?30 years, from neuromuscular centers in France International Clinical Outcome Study for (COS). Patients early-onset (EO) (<30 years) were randomly selected COS study as a ...

BACKGROUND Interpretation of pediatric electromyography interpretation in myopathic disorders is technically challenging. We assessed our electromyographic experience with respect to sensitivity and specificity in pediatric myopathy. METHODS We did a retrospective chart review of patients ≤18 years between 2009 and 2013. Two hundred twenty-four electromyographic studies were reviewed with the...

Two cases of acute myositis characterized by intense muscle pain, weakness, myoglobinuria in one and muscle biopsy showing inflammatory changes in both with good recovery are described. It is reported because of the rarity of this condition.

We report two opposite-sex siblings with the severe infantile form of nemaline myopathy; diagnoses were made on muscle biopsy. Neither parent showed clinical or electromyographic evidence of myopathy, and both had negative muscle biopsies. Autosomal recessive inheritance seems likely.

BACKGROUND Persistent high creatine kinase (CK) levels may reflect underlying subclinical myopathies. In most cases, pathogenesis is unknown and clinical management is unclear. Though clinically asymptomatic, these subjects are potentially susceptible to malignant hyperthermia. METHODS The authors analyzed 37 subjects with persistent elevation of CK without significant weakness or other neuro...