adult-onset proximal spinal muscular atrophy, autosomal dominant

ORPHA: 209335

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

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 adult-onset proximal spinal muscular atrophy, autosomal dominant, sourced from HPO and Orphanet clinical annotations.

AreflexiaFasciculationsLoss of ambulationGowers signMuscle spasmEMG: neuropathic changesDifficulty climbing stairsProximal amyotrophyFatigueTremorJoint stiffnessTalipesShuffling gaitMyotoniaWaddling gaitElevated circulating creatine kinase concentrationUpper limb muscle weaknessLower limb muscle weaknessCalf muscle hypertrophy

Classification & Codes

Orphanet Code

ORPHA:209335

adult-onset proximal spinal muscular atrophy, autosomal dominant

Orphanet	`ORPHA:209335`
Treatments	0 drug(s)
Symptoms on record	19 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO