Autosomal recessive distal spinal muscular atrophy type 2

disorder

SNOMED 763533003CUI C1854023

Overview

Autosomal recessive distal spinal muscular atrophy type 2 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Treatments & Interventions

Risdiplam

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absent Achilles reflex

Always present (100%)HP:0003438

Decreased CMAP amplitude

Always present (100%)HP:0033383

Decreased motor nerve conduction velocity

Always present (100%)HP:0003431

Distal muscle atrophy, upper and lower limbs

Always present (100%)HP:0003693

Inability to heel walk

Always present (100%)HP:0009027

Overactive knee reflex

Always present (100%)HP:0007083

Weakness of outermost muscles

Always present (100%)HP:0002460

Claw hand deformity

Frequent (30-79%)HP:0034337

Extensor plantar responses

Frequent (30-79%)HP:0003487

Hammertoe

HP:0001765

Pes cavus

HP:0001761

Spinal muscle wasting

HP:0007269

Related Conditions

Autosomal recessive distal hereditary motor neuropathy(parent)

Quick Facts

SNOMED CT: 763533003
UMLS CUI: C1854023
Fully Specified Name: Distal hereditary motor neuropathy Jerash type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12
Known Treatments: 1

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.