Autosomal dominant childhood-onset proximal spinal muscular atrophy

disorder

SNOMED 772129007CUI C1834690

Overview

Autosomal dominant childhood-onset proximal spinal muscular atrophy is a disorder.

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

Signs & Symptoms

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

Cognitive delay

Occasional (5-29%)HP:0001263

Decreased patellar reflex

HP:0011808

Delayed ability to walk

HP:0031936

Difficulty running

HP:0009046

EMG: neuropathic changes

HP:0003445

Foot deformity

HP:0001760

Proximal lower limb muscle atrophy

HP:0008956

Proximal muscle weakness in lower limbs

HP:0008994

Sensory impairment

HP:0003474

Spinal muscle wasting

HP:0007269

Type 2 muscle fibre predominance

HP:0010602

Waddling gait

HP:0002515

Related Conditions

Spinal muscular atrophy(parent)

Autosomal dominant hereditary disorder(parent)

Quick Facts

SNOMED CT: 772129007
UMLS CUI: C1834690
Fully Specified Name: Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.