Machado-Joseph disease type 2
ORPHA: 276241
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 type 2, sourced from HPO and Orphanet clinical annotations.
Progressive external ophthalmoplegiaAbnormality of extrapyramidal motor functionProgressive cerebellar ataxiaProptosisSupranuclear ophthalmoplegiaGaze-evoked nystagmusDiplopiaDelayed speech and language developmentSpasticityDysarthriaCerebellar atrophyDystoniaHyperreflexiaDilated fourth ventricleClumsinessUpper motor neuron dysfunctionSpinocerebellar tract degenerationSkeletal muscle atrophyBabinski signFacial-lingual fasciculationsProgressive gait ataxiaAbnormal pyramidal signPeripheral neuropathySubstantia nigra gliosisDegeneration of the striatumNeurogenic bladderVocal cord paralysisAbnormal vestibular functionDysphagiaMemory impairmentSleep disturbanceMuscle spasmAbnormality of temperature regulationDistal lower limb amyotrophy
Classification & Codes
Orphanet Code
ORPHA:276241Machado-Joseph disease type 2
| Orphanet | ORPHA:276241 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO