Machado-Joseph disease
ICD-10: G11.1MeSH: D017827ORPHA: 98757
Overview
autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Machado-Joseph disease, sourced from HPO and Orphanet clinical annotations.
ProptosisProgressive external ophthalmoplegiaNystagmusDiplopiaDelayed speech and language developmentDysarthriaDystoniaHyperreflexiaAbnormality of extrapyramidal motor functionProgressive cerebellar ataxiaClumsinessSkeletal muscle atrophyAbnormal pyramidal signVocal cord paralysisAbnormal vestibular functionAbnormality of temperature regulation
Classification & Codes
ICD-10 Code
G11.1MeSH Code
D017827Orphanet Code
ORPHA:98757Machado-Joseph disease
| ICD-10 | G11.1 |
| MeSH | D017827 |
| Orphanet | ORPHA:98757 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO