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Proximal myotonic myopathy
Author(s) -
Schuitevoerder K.,
Ansved T.,
Solders G.,
Borg K.
Publication year - 1997
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.1600-0404.1997.tb00282.x
Subject(s) - myotonia , myotonic dystrophy , muscle biopsy , myopathy , medicine , weakness , muscle weakness , atrophy , biopsy , electromyography , muscle atrophy , muscle stiffness , nerve biopsy , pathology , muscle tone , anatomy , physical medicine and rehabilitation , endocrinology , peripheral neuropathy , stiffness , structural engineering , engineering , diabetes mellitus
Three Swedish patients with proximal muscle weakness, myotonia and lack of CTG expansion on genetical analysis are presented. Clinical neurological and neurophysiological examination and muscle biopsy were performed. There was an indication of autosomal dominant inheritance in 2 of the 3 patients. The main symptoms and clinical findings in the 3 patients were weakness of the proximal muscles, myotonia, muscle stiffness, muscle pain and muscle atrophy. Neurophysiological examination showed myotonic bursts and muscle biopsy snowed a variation of fibre sizes, an increased number of muscle fibres with centralized nuclei and scattered atrophic muscle fibres. Laboratory data showed elevated CK, GT and LD in 1 patient. Before genetical analysis was performed, all 3 patients had been diagnosed as atypical cases of myotonic dystrophy. However, the symptoms, clinical signs, laboratory data, electrophysiological and muscle biopsy findings were compatible with proximal myotonic myopathy (PROMM).