Machado-Joseph disease type 3
ORPHA: 276244
Overview
Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy
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 3, sourced from HPO and Orphanet clinical annotations.
Babinski signFacial-lingual fasciculationsProgressive gait ataxiaAbnormal pyramidal signSubstantia nigra gliosisDegeneration of the striatumNeurogenic bladderVocal cord paralysisAbnormal vestibular functionDysphagiaMemory impairmentSleep disturbanceMuscle spasmPeripheral axonal neuropathyAbnormality of temperature regulationProgressive external ophthalmoplegiaAbnormality of extrapyramidal motor functionProgressive cerebellar ataxiaDistal lower limb amyotrophyProptosisSupranuclear ophthalmoplegiaGaze-evoked nystagmusDiplopiaDelayed speech and language developmentSpasticityDysarthriaCerebellar atrophyDystoniaHyperreflexiaDilated fourth ventricleClumsinessAbnormal lower motor neuron morphologyDegeneration of anterior horn cellsDistal muscle weaknessUpper motor neuron dysfunctionSpinocerebellar tract degenerationSkeletal muscle atrophyEMG abnormality
Classification & Codes
Orphanet Code
ORPHA:276244Machado-Joseph disease type 3
| Orphanet | ORPHA:276244 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO