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autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

ORPHA: 363454

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 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 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, sourced from HPO and Orphanet clinical annotations.

Gait disturbanceDistal muscle weaknessWaddling gaitGowers signProximal muscle weaknessCongenital foot contraction deformitiesDistal lower limb amyotrophyHyporeflexiaMotor delayHyperreflexiaFlexion contractureHip dysplasiaDecreased fetal movementHyperlordosisAbnormal Achilles tendon morphologyShoulder girdle muscle weaknessHand muscle weakness

Classification & Codes

Orphanet Code

ORPHA:363454
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
OrphanetORPHA:363454
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | OrphanDrug