Autosomal recessive distal spinal muscular atrophy type 4

disorder

SNOMED 771302009CUI C1970211

Overview

Autosomal recessive distal spinal muscular atrophy type 4 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.

Areflexia

HP:0001284

Cobb angle greater than ten degrees

HP:0002650

Contractures of the hands

HP:0009473

Difficulty walking up stairs

HP:0003551

Distal limb muscle weakness due to peripheral neuropathy

HP:0002460

Distal muscle atrophy, upper and lower limbs

HP:0003693

EMG: neuropathic changes

HP:0003445

Foot, talipes equinovarus

HP:0001762

Gait disturbance

HP:0001288

Lower motor neuron manifestations

HP:0002366

Prominent swayback

HP:0003307

Proximal limb muscle weakness

HP:0003701

Respiratory failure due to muscle weakness

HP:0002747

Scapuloperoneal atrophy

HP:0003697

Spinal muscle wasting

HP:0007269

Waddling gait

HP:0002515

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Disease of skeletal muscle(parent)

Distal spinal muscular atrophy(parent)

Chronic musculoskeletal disorder(parent)

Quick Facts

SNOMED CT: 771302009
UMLS CUI: C1970211
Fully Specified Name: Autosomal recessive lower motor neuron disease with childhood onset (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.