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

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 Emergy-Dreifuss disease.

The mode of transmission and cardiac abnormalities, however, raise the problem of variability even in this well-defined, usually X-linked, disorder.

Sommario

Questa è la prima descrizione di madre e figlia affette da una infrequente malattia muscolare, caratterizzata da progressione lenta, ipostenia con atrofia a distribuzione omero-peroneale, presenza di contratture articolari, cardiopatia e pattern miopatico dell'EMG.

Istologia e istochimica muscolare hanno mostrato in entrambi i soggetti atrofia e predominanza delle fibre del I tipo. Le anormalità cardiologiche rilevate nel 1° caso, erano a favore di una cardiomiopatia ipertrofica, mentre nel secondo caso erano presenti ipotensione e bradicardia.

Segni neurologici, elettromiografici, reperti istologici ed istochimici sembrano configurare nelle nostre pazienti una variante genetica della forma di distrofia muscolare chiamata “Emery-Dreifuss disease”. Tuttavia, la modalità di trasmissione e il tipo delle anormalità cardiologiche, diverse nelle due pazienti, sollevano il problema di variabilità fenotipiche, anche in entità clinico-genetiche usualmente ben definite quali la malattia di Emery-Dreifuss.

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Galassi, G., Modena, M.G., Benassi, A. et al. Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss disease?. Ital J Neuro Sci 7, 125–132 (1986). https://doi.org/10.1007/BF02230430

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  • DOI: https://doi.org/10.1007/BF02230430

Key-Words

  • Emery-Dreifuss disease
  • X-linked inheritance
  • fiber atrophy and predominance