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

Autosomal recessive limb-girdle muscular dystrophy type 2T

Synonyms
Limb-girdle muscular dystrophy-dystroglycanopathy, type C14; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2T; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

MDDGC14 is an autosomal recessive form of muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness. Some patients may have additional features, such as mild intellectual disability or seizures. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). Some patients with GMPPB mutations may show features consistent with a congenital myasthenic syndrome (see, e.g., CMS1A; 601462), such as fatigability and decremental compound muscle action potential response to repetitive nerve stimulation; these patients may show a positive therapeutic response to treatment with pyridostigmine (Belaya et al., 2015). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). [from OMIM]

Available tests

41 tests are in the database for this condition.

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Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LGMDR19, MDDGA14, MDDGB14, MDDGC14, GMPPB
    Summary: GDP-mannose pyrophosphorylase B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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