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GTR Home > Conditions/Phenotypes > Frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Synonyms
CHCHD10-Related Frontotemporal Dementia/Amyotrophic Lateral Sclerosis; FTDALS2

Summary

CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic phenotypes that can include: Mitochondrial myopathy (may also be early onset): weakness, amyotrophy, exercise intolerance. Amyotrophic lateral sclerosis (ALS): progressive degeneration of upper motor neurons and lower motor neurons. Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline, extrapyramidal signs. Late-onset spinal motor neuronopathy (SMA, Jokela type): weakness, cramps, and/or fasciculations; areflexia. Axonal Charcot-Marie-Tooth neuropathy: slowly progressive lower-leg muscle weakness and atrophy, small hand muscle weakness, loss of tendon reflexes, sensory abnormalities. Cerebellar ataxia: gait ataxia, kinetic ataxia (progressive loss of coordination of lower- and upper-limb movements), dysarthria/dysphagia, nystagmus, cerebellar oculomotor disorder. Because of the recent discovery of CHCHD10-related disorders and the limited number of affected individuals reported to date, the natural history of these disorders (except for SMAJ caused by the p.Gly66Val pathogenic variant) is largely unknown. [from GeneReviews]

Available tests

34 tests are in the database for this condition.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C22orf16, FTDALS2, IMMD, MIX17A, N27C7-4, SMAJ, CHCHD10
    Summary: coiled-coil-helix-coiled-coil-helix domain containing 10

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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