Familial myopathies with restricted distribution, facial weakness and inflammatory changes in affected muscles.
A myopathy characterized by restricted involvement of few muscles and inflammatory cell infiltration was observed in three families. In the first family, clinical features, hereditary transmission and biopsy findings were consistent with the diagnosis of facioscapulohumeral dystrophy. However in three of the four affected members, the occurrence of atrophies was specifically initiated by severe muscular pain. In the second family two 8-year-old identical twins had both marked facial weakness and atrophy limited to the right quadriceps femoris. In the third family, marked asymmetry of muscular wasting in the upper limbs was found in the 17-year-old daughter of a man suffering from facial and axial weakness. The indication of corticotherapy in such cases is discussed.
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D005152:Facial Muscles / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009220:Myositis / Q000150:complications*; D010375:Pedigree