juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

ORPHA: 445062

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 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, sourced from HPO and Orphanet clinical annotations.

Diabetes mellitusCerebellar atrophyCerebral atrophyGait ataxiaAreflexia of lower limbsShort statureDecreased body weightAtrophy of the spinal cordDemyelinating peripheral neuropathySensorimotor neuropathyAtrophy/Degeneration affecting the brainstemBilateral sensorineural hearing impairmentSensory ataxiaMild intellectual disabilityBabinski sign

Classification & Codes

Orphanet Code

ORPHA:445062
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
OrphanetORPHA:445062
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO