CLINICAL AND PATHOLOGIC FEATURES OF A DISTAL MYOPATHY FAMILY

Objective:To report the clinical manifestations and pathological features in a Chinese family with distal myopathy.Methods:Family survey,genetic map,clinical manifestation and pathological features of biopsied muscle specimens were summarized and analysed,we could make the primary diagnosis.Results:The onset of disease in the proband was a 29 years old male.At the age of 13 he appeared clubfoot,progressive muscular atrophy and weakness in the lower limbs.We studied five generations which have 117 members,36 of whom were affected(male 12,female 24).The other affected members had similar symptoms.Electromyography demonstrated myopathic pattem.Muscle biopsy was peformed distal myopathy in the gastrocnemius muscle.Conclusion:According to family history,clinical and myopathological features,miyoshi myopathy of subtype distal myopathies was considered with autosomal recessive inheritance.