Two females mother and daughter, were affected by a neuromuscular disorder, characterized by slow progression, humeroperoneal weakness and wasting, limited neck flexion, elbow and ankle joint contractures, cardiopathy and myopathic pattern on EMG. Muscle histology and histochemistry showed type I fiber atrophy and predominance in both. Cardiac abnormalities, in the first case, were suggestive of a hypertrophic cardiomyopathy while in the second hypotension and chronic bradycardia were present. Neurological signs, EMG and morphology seemed to point to a genetic variant of the form of dystrophy named Emery-Dreifuss disease. The mode of transmission and cardiac abnormalities, however, raise the problem of variability even in this well-defined, usually X-linked, disorder.

Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy : a genetic variant of Emery-Dreifuss disease? / G. Galassi, M.G. Modena, A. Benassi, R. Nemni, M. Gibertoni, G. Volpi, A. Colombo. - In: ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES. - ISSN 0392-0461. - 7:1(1986 Feb), pp. 125-132.

Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy : a genetic variant of Emery-Dreifuss disease?

M.G. Modena;R. Nemni;
1986-02

Abstract

Two females mother and daughter, were affected by a neuromuscular disorder, characterized by slow progression, humeroperoneal weakness and wasting, limited neck flexion, elbow and ankle joint contractures, cardiopathy and myopathic pattern on EMG. Muscle histology and histochemistry showed type I fiber atrophy and predominance in both. Cardiac abnormalities, in the first case, were suggestive of a hypertrophic cardiomyopathy while in the second hypotension and chronic bradycardia were present. Neurological signs, EMG and morphology seemed to point to a genetic variant of the form of dystrophy named Emery-Dreifuss disease. The mode of transmission and cardiac abnormalities, however, raise the problem of variability even in this well-defined, usually X-linked, disorder.
Emery-Dreifuss disease; fiber atrophy and predominance; X-linked inheritance
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/204222
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