U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neuronopathy, distal hereditary motor, type 7A

Neuronopathy, distal hereditary motor, type 7A

Synonyms
HARPER-YOUNG MYOPATHY; HMN VIIA; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 7; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIA; NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIA; Neuronopathy, distal hereditary motor, type viia; SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS

Summary

Autosomal dominant distal hereditary motor neuronopathy-7 (HMND7) is a neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960). [from OMIM]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHT, CHT1, CMS20, DHMNVP, HMN7A, HMND7, hCHT1, SLC5A7
    Summary: solute carrier family 5 member 7

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.