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Oculopharyngeal muscular dystrophy and distal myopathy
Author(s) -
Fukuhara Nobuyoshi,
Kumamoto Toshihide,
Tsubaki Tadao,
Mayuzumi Toshio,
Nitta Hatsumi
Publication year - 1982
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1982.tb03103.x
Subject(s) - oculopharyngeal muscular dystrophy , inclusion body myositis , myopathy , muscle biopsy , medicine , muscular dystrophy , pharyngeal muscles , myositis , etiology , pathology , biopsy , sarcoplasm , anatomy , pharynx , calcium
A family is reported which included a patient with a variant form of oculopharyngeal muscular dystrophy. The patient's son suffered from infantile muscular dystrophy with a distal distribution in the lower extremities and no oculopharyngeal symptoms. Case 1, the father, showed blepharoptosis, but no limitation of ocular movements. Case 2, the son, showed early onset of weakness and more rapid progression of muscle involvement than the father. In both patients EMG, muscle biopsies and elevated serum CPK indicated the myopathic nature of the disorder. A muscle biopsy specimen in Case 2 showed abundant rimmed vacuoles and abnormal filaments 13–19 nm in diameter in the sarcoplasm, usually reported to occur in inclusion body myositis. The findings indicate that oculopharyngeal muscular dystrophy and distal myopathy are related in their etiology and distal myopathy and inclusion body myositis are regarded as variant forms of the same disease.