Ullrich Congenital Muscular Dystrophy 1

Alternative Names

  • UCMD1
  • Ullrich Congenital Muscular Dystrophy
  • UCMD
  • Muscular Dystrophy, Scleroatonic
  • Ullrich Disease
  • Ullrich Scleroatonic Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
  • LGMDR22
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number


Mode of Inheritance

Autosomal recessive Autosomal dominant

Gene Map Locus

2q37.3; 21q22.3; 21q22.3,21q22.3


Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
254090.1LebanonUnknownYes Global developmental delay; Hypotonia; E...NM_001849.4:c.2611G>AHomozygousAutosomal, RecessiveJalkh et al. 2019
254090.2Saudi ArabiaMaleNo Motor delay; Delayed speech and language...NM_004369.4:c.7094delHomozygousAutosomal, RecessiveMonies et al. 2019
254090.3Saudi ArabiaFemale Microcephaly; Intellectual disability; M...NM_001848.3:c.329G>AHeterozygousDe novoMonies et al. 2019
254090.4Saudi ArabiaFemaleYesYes Failure to thrive; Macrocephaly; Hydroce...NM_001848.3:c.1693C>THomozygousAutosomal, RecessiveMonies et al. 2019 2 siblings died of h...
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