Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset

Alternative Names

  • EMARDD
  • Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

614399

Mode of Inheritance

Autosomal recessive

Gene Map Locus

5q23.2

Description

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614399.1United Arab EmiratesFemaleYes Polyhydramnios; Generalized hypotonia; N... NM_001256545.2:c.1557delHomozygousAutosomal, RecessiveAlabdullatif et al. 2017
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