BETWEEN the middle and the end of the 19th century, muscular dystrophies were established as clinical and pathological entities distinct from neurogenic muscular atrophies.
However, keen eyes of excellent clinicians have never overlooked unusual signs occasionally observed in muscular dystrophy patients. Landouzy and Déjèrine1 observed fasciculations in one of their patients with facioscapulohumeral (FSH) dystrophy and stated, "Fibrillary contractions of muscle favor myelopathy." Some cases of atypical muscular dystrophies with fasciculations have been described. As early as 1886 Penzoldt2 recognized such a disease and considered it a transitional form between muscular dystrophy and spinal muscular atrophy. Erb3 in 1910 emphasized the difficulty in diagnosing muscular dystrophy because of the presence of such a transitional form. However, little attention was paid such atypical muscular dystrophies.
Recently, biochemical, electron microscopic, and electrophysiological studies have shown the presence of several new diseases, some of which are clinically difficult to differentiate
Furukawa T, Peter JB. The Muscular Dystrophies and Related Disorders: II. Diseases Simulating Muscular Dystrophies. JAMA. 1978;239(16):1654–1659. doi:10.1001/jama.1978.03280430070022
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