Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMRDD) is an autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual features on muscle biopsy. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause EMRDD.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C72 Congenital myopathies
H02321 Early-onset myopathy, areflexia, respiratory distress, and dysphagia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H02321 Early-onset myopathy, areflexia, respiratory distress, and dysphagia
Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hubner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA
Title
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
