Pearn, J. H., and Wilson, J. (1973). Archives of Disease in Childhood, 48, 768. Chronic generalized spinal muscular atrophy of infancy and childhood: arrested Werdnig-Hoffmann disease. Recent studies have shown that the acute fatal form of infantile spinal muscular atrophy (acute Werdnig-Hoffmann disease or spinal muscular atrophy Type I) is a distinct genetic and clinical entity. This has prom...

OBJECTIVE To measure muscle strength in patients with spinal muscular atrophy using a handheld dynamometer as an objective tool to evaluate the progression of disease and the outcome of therapeutic trials. DESIGN Maximum voluntary isometric contraction was measured in a group of 24 patients aged 5-38 years with types II and III spinal muscular atrophy. Four muscle groups were examined. Data w...

Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were sugges...

Spinal and bulbar muscular atrophy is an X-linked degenerative motor neuron disease caused by an abnormal expansion in the polyglutamine encoding CAG repeat of the androgen receptor gene. There is evidence implicating endoplasmic reticulum stress in the development and progression of neurodegenerative disease, including polyglutamine disorders such as Huntington's disease and in motor neuron di...

Glycyl-tRNA synthetase (GlyRS) is one of the key enzymes involved in protein synthesis. Its mutations have been reported to cause Charcot-Marie-Tooth disease which demonstrates muscular atrophy in distal extremities, particularly manifested in peroneus muscles. In this situation, the dysfunctions of mitochondria and sarcoplasmic reticulum (SR) affect energy supply and excitation-contraction cou...

An uncommon variety of non familial, juvenile onset, spinal muscular atrophy with asymmetric distal upper extremity affection is described. One hundred and two patients with a one to 14 year follow up are analysed. Spinal muscular atrophies with a distal distribution are rare. However, in the past three decades, previously unrecognised varieties of neurogenic muscular atrophy have been describe...

OBJECTIVE We examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis. METHODS A videofluoroscopic swallowing study was performed on 111 conse...

spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous deletion of the survival motor neuron gene 1 (smn1) in more than 90% of patients. according to the age of onset and severity of the disease, sma is classified into three groups: type i (severe), type ii (intermediate) and type iii (mild). as reported, the smn2 gene, centromeric copy gene, showed ...