Machado-Joseph disease type 1
ORPHA: 276238
Overview
Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs
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 1, sourced from HPO and Orphanet clinical annotations.
Progressive external ophthalmoplegiaDystoniaAbnormality of extrapyramidal motor functionProgressive cerebellar ataxiaUpper motor neuron dysfunctionAbnormal pyramidal signPeripheral neuropathyProptosisSupranuclear ophthalmoplegiaGaze-evoked nystagmusDiplopiaDelayed speech and language developmentSpasticityDysarthriaCerebellar atrophyHyperreflexiaDilated fourth ventricleClumsinessSpinocerebellar tract degenerationSkeletal muscle atrophyBabinski signFacial-lingual fasciculationsProgressive gait ataxiaSubstantia nigra gliosisDegeneration of the striatumNeurogenic bladderVocal cord paralysisAbnormal vestibular functionDysphagiaMemory impairmentSleep disturbanceMuscle spasmAbnormality of temperature regulationDistal lower limb amyotrophy
Classification & Codes
Orphanet Code
ORPHA:276238Machado-Joseph disease type 1
| Orphanet | ORPHA:276238 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO