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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 2D

Charcot-Marie-Tooth disease type 2D

Synonyms
CMT 2D; Charcot-Marie-Tooth Neuropathy Type 2D; Charcot-Marie-Tooth disease, axonal, Type 2D; Charcot-Marie-Tooth disease, neuronal, Type 2D
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

The phenotypic spectrum of GARS1-associated axonal neuropathy ranges from GARS1 infantile-onset SMA (GARS1-iSMA) to GARS1 adolescent- or early adult-onset hereditary motor/sensory neuropathy (GARS1-HMSN). GARS1-iSMA. Age of onset ranges from the neonatal period to the toddler years. Initial manifestations are typically respiratory distress, poor feeding, and muscle weakness (distal greater than proximal). Weakness is slowly progressive, ultimately requiring mechanical ventilation and feeding via gastrostomy tube. GARS1-HMSN. Age of onset is most commonly during the second decade (range eight to 36 years). Initial manifestations are typically muscle weakness in the hands sometimes with sensory deficits. Lower limb involvement (seen in ~50% of individuals) ranges from weakness and atrophy of the extensor digitorum brevis and weakness of toe dorsiflexors to classic peroneal muscular atrophy with foot drop and a high steppage gait. [from GeneReviews]

Available tests

54 tests are in the database for this condition.

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Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT2D, DSMAV, GARS, GlyRS, HMN5, HMN5A, HMND5, SMAD1, SMAJI, GARS1
    Summary: glycyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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