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There were 66 patients with late adult-onset tibial muscular dystrophy. Symptoms appear after the age of 35 years with reduced ankle dorsiflexion, and progress is slow without marked disability.Facial muscles,upper extremities,and proximal muscles are usually spared.Muscle biopsy results reveal nonspecific dystrophic changes in clinically affected muscles,and frequently severe adipose replacement in the anterior tibial muscles occurs.Asymptomatic muscles have mild myopathic changes only.Vacuolar degeneration is detected in a minority of patients.Electromyography shows profound myopathic changes in the anterior tibial muscle,but extensor brevis muscles are well preserved.Computed tomography or magnetic resonance imaging of muscles discloses marked involvement of tibial extensor muscles and focal patches of fatty degeneration in various asymptomatic muscles.Pedigree data suggest autosomal dominant inheritance. Tibial muscle dystrophy might represent a new form of distal myopathy and it is rather common,at least in Finland. |
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anterior tibial muscle weakness distal muscle atrophy distal muscle weakness familial genetic neurologic disorders muscle biopsy myopathy myopathy,distal myopathy,distal,vacuolar myopathy,vacuolar
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