Muscular Dystrophy, Congenital, 1B

Alternative Names

  • MDC1B
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WHO-ICD-10 version:2010

Diseases of the nervous system

Diseases of myoneural junction and muscle

OMIM Number

604801

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q42

Description

Congenital muscular dystrophy is a heterogeneous group of inherited autosomal recessive disorders with onset at birth or in early infancy, characterized by severe hypotonia, markedly delayed motor development, generalized muscle atrophy with weakness of limb and trunk muscles leading to contractures and joint deformities. Congenital muscular dystrophy 1B represents a heterogeneous group of conditions characterized by proximal girdle weakness, generalized muscle hypertrophy, and rigidity of the spine and contractures of the tendo Achilles.

Molecular Genetics

In the past few years, there has been remarkable progress in the understanding of the genetic and biochemical basis of the muscular dystrophies. The majority of these conditions are caused by mutations in genes that encode sarcolemmal or extracellular-matrix proteins. Genome-wide analysis in affected individuals with congenital muscular dystrophy 1B showed linkage to the region on 1q42.

Epidemiology in the Arab World

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Other Reports

United Arab Emirates

Muntoni et al. (1998) described a form of congenital muscular dystrophy characterized by proximal muscle weakness, muscle hypertrophy, and early respiratory failure in a consanguineous family from the United Arab Emirates. The four affected siblings in the family showed generalized muscle hypertrophy, and rigidity of the spine and contractures of the Achilles tendons. Severe diaphragmatic involvement was responsible for the early respiratory failure. Serum creatine kinase levels were grossly elevated, and muscle biopsy samples showed dystrophic changes.The pattern of inheritance was clearly autosomal recessive.  Linkage to the LAMA2 locus on 6q22-q23 was excluded.  Brockington et al. (2000) performed genome-wide linkage analysis on this family  and found that the two affected children  showed an identical homozygous region on 1q42, spanning 6 to 15 cM. 

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