proximal spinal muscular atrophy

ORPHA: 70

Contents

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

Overview

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei

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

Skeletal muscle atrophyProximal muscle weaknessBulbar palsyAreflexiaTongue fasciculationsReduced tendon reflexesDysphagiaPoor suckRecurrent aspiration pneumoniaDistal muscle weaknessInability to walkNeonatal respiratory distressRespiratory insufficiency due to muscle weaknessAxial muscle weaknessDifficulty climbing stairsQuadriceps muscle weaknessIntercostal muscle weaknessRecurrent infections due to aspirationDifficulty runningFatigueWeakness of facial musculatureTriceps weaknessHypotoniaGlobal developmental delayMotor delayNeonatal hypotoniaFacial diplegiaFlexion contractureDecreased fetal movementAtrial septal defectConstipationGastroesophageal refluxRestrictive ventilatory defectPoor head controlGastroparesisScoliosisHypoventilationHip dislocationMultiple joint contracturesRespiratory failureThoracic kyphosisDifficulty standingKnee flexion contractureAbsent patellar reflexesDistal upper limb muscle weaknessDistal lower limb muscle weaknessBradycardiaMetabolic acidosisElbow flexion contractureGait disturbance

Classification & Codes

Orphanet Code

ORPHA:70

proximal spinal muscular atrophy

Orphanet	`ORPHA:70`
Treatments	0 drug(s)
Symptoms on record	50 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO