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GTR Home > Conditions/Phenotypes > Autosomal recessive limb-girdle muscular dystrophy type 2U

Autosomal recessive limb-girdle muscular dystrophy type 2U

Synonyms
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers'' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities. [from SNOMEDCT_US]

Available tests

35 tests are in the database for this condition.

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Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ISPD, LGMDR20, MDDGA7, MDDGC7, Nip, hISPD, CRPPA
    Summary: CDP-L-ribitol pyrophosphorylase A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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