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

Associated Genes

Collagen, Type VI, Alpha-1; Collagen, Type VI, Alpha-2; Collagen, Type Vi, Alpha-3

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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

254090

Mode of Inheritance

Autosomal recessive Autosomal dominant

Gene Map Locus

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

Description

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 ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
254090.1	Lebanon	Unknown		Yes	Global developmental delay; Hypotonia; E... Global developmental delay; Hypotonia; Elevated circulating creatine kinase concentration	NM_001849.4:c.2611G>A	Homozygous	Autosomal, Recessive	Jalkh et al. 2019
254090.2	Saudi Arabia	Male	No		Motor delay; Delayed speech and language... Motor delay; Delayed speech and language development; Severe muscular hypotonia	NM_004369.4:c.7094del	Homozygous	Autosomal, Recessive	Monies et al. 2019
254090.3	Saudi Arabia	Female			Microcephaly; Intellectual disability; M... Microcephaly; Intellectual disability; Motor delay; Hypotonia; Abnormal facial shape	NM_001848.3:c.329G>A	Heterozygous	De novo	Monies et al. 2019
254090.4	Saudi Arabia	Female	Yes	Yes	Failure to thrive; Macrocephaly; Hydroce... Failure to thrive; Macrocephaly; Hydrocephalus; Hypotonia; Rocker bottom foot	NM_001848.3:c.1693C>T	Homozygous	Autosomal, Recessive	Monies et al. 2019	2 siblings died of h...