Congenital distal spinal muscular atrophy

ICD-10: G12.2ORPHA: 1216

Overview

hereditary condition characterized by muscle wasting

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 Congenital distal spinal muscular atrophy, sourced from HPO and Orphanet clinical annotations.

HypotoniaJoint stiffnessDistal amyotrophyCachexiaNonprogressive muscular atrophy

Classification & Codes

ICD-10 Code

G12.2

Orphanet Code

ORPHA:1216
Congenital distal spinal muscular atrophy
ICD-10G12.2
OrphanetORPHA:1216
Treatments0 drug(s)
Symptoms on record5 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO