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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I; Charcot-Marie-Tooth disease, demyelinating, type 1I

Summary

Demyelinating Charcot-Marie-Tooth disease type 1I (CMT1I) is a neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties. Other features may include spasticity, hyperreflexia, tremor, dysmetria, seizures, or cerebellar findings. Brain imaging may be normal or show nonspecific abnormalities, such as white matter signal changes and delayed myelination (summary by Djordjevic et al., 2021). For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C128, CMT1I, HLD8, INMAP, RPC2, POLR3B
    Summary: RNA polymerase III subunit B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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