title: Distal muscular dystrophy. Case reports.
abstract: The distal muscular dystrophy has been described in 1902 by Gowers. Since then a lot of cases with different mode of inheritance, clinical involvement and morphological findings have been described. Obviously distal myopathies are not a single entity. We describe four new cases of distal myopathy. Although we suppose that they are from the adult-onset Welander's form, they are different in some points. Two cases were with onset in the lower limbs and autosomal dominant inheritance, the third one was sporadic with onset in the lower limbs and the last one was sporadic with onset in the upper limbs. The distal muscles were markedly, while the proximal were slightly involved. Sternocleidomastoid, neck or facial muscles wasting were also found in three cases. The serum creatine kinase in all patients was in nearly normal limits. The electromyographic findings were consistent with chronic myopathy, although fibrillation potentials and positive sharp waves were found in three cases. Muscle biopsy data confirm the myopathic involvement in all patients. We have described patients, which confirm the variability of distal myopathies, regarding the age of onset, initial symptoms, clinical picture, electromyographic and muscle biopsy findings.
authors.affiliation: Department of Neurology, University Hospital, Tzarita Ioanna, Sofia, Bulgaria.
authors.forename: B
authors.initials: B
authors.lastname: Ishpekova
authors.forename: I
authors.initials: I
authors.lastname: Milanov
mesh_terms: D000328:Adult; D001706:Biopsy; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D011984:Sensory Receptor Cells / Q000502:physiology