U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 9A

Hereditary spastic paraplegia 9A

Synonyms
Autosomal dominant spastic paraparesis; Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy; CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES; Cataracts, motor neuronopathy, short stature and skeletal abnormalities; SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX; SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; Spastic paraplegia 9
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). [from OMIM]

Available tests

38 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B, ALDH18A1
    Summary: aldehyde dehydrogenase 18 family member A1

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.