severe neurodegenerative syndrome with lipodystrophy
ORPHA: 363400
Overview
human disease
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 severe neurodegenerative syndrome with lipodystrophy, sourced from HPO and Orphanet clinical annotations.
Progressive encephalopathyHyperinsulinemiaInsulin resistanceReduced subcutaneous adipose tissueProgressive psychomotor deteriorationGeneralized lipodystrophyReduced intraabdominal adipose tissueCognitive impairmentCoarse facial featuresDelayed speech and language developmentSeizureAtaxiaSpasticityMyoclonusTremorHyperreflexiaBrisk reflexesHepatic steatosisHypertriglyceridemiaIncoordinationSleep disturbanceAbnormal pyramidal signHyperactivityHypertensionAcanthosis nigricansCirrhosisCerebral atrophyGait ataxiaGeneralized hirsutismHepatomegalyTetraparesisCaudate atrophyLimb dystoniaNeuronal loss in central nervous systemRespiratory failureMyopathyStatus epilepticus
Classification & Codes
Orphanet Code
ORPHA:363400severe neurodegenerative syndrome with lipodystrophy
| Orphanet | ORPHA:363400 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO