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Early-onset myopathy with fatal cardiomyopathy

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Disease definition

A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.

ORPHA:289377

Classification level: Disorder

Synonym(s):
  • EOMFC
  • Salih myopathy

Prevalence: Unknown

Inheritance: Autosomal recessive

Age of onset: Infancy, Neonatal

ICD-10: G71.8

ICD-11: 8C7Y

OMIM: 611705

UMLS: C2673677

MeSH: C567129

A summary on this disease is available in Français (2020) Español (2020) Deutsch (2020) Italiano (2020) Nederlands (2020)
Detailed information
Disease review articles
Clinical genetics review
English (2019) - GeneReviews

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.