Autosomal dominant late-onset spinal muscular atrophy Finkel type

disorder

SNOMED 784391002CUI C1854058

Overview

Autosomal dominant late-onset spinal muscular atrophy Finkel type 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.

Hyporeflexia

Always present (100%)HP:0001265

Proximal neurogenic muscle weakness

Very frequent (80-99%)HP:0003701

Absent tendon reflexes

Frequent (30-79%)HP:0001284

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

EMG: neuropathic changes

Frequent (30-79%)HP:0003445

Loss of ambulation

Frequent (30-79%)HP:0002505

Muscle fasciculation

Frequent (30-79%)HP:0002380

Muscle spasm

Frequent (30-79%)HP:0003394

Positive Gower sign

Frequent (30-79%)HP:0003391

Symmetrical, proximal limb muscle atrophy

Frequent (30-79%)HP:0007126

Tiredness

Frequent (30-79%)HP:0012378

Delayed relaxation of muscle fibres after contraction

Occasional (5-29%)HP:0002486

Distal limb muscle weakness due to peripheral neuropathy

Occasional (5-29%)HP:0002460

Distal muscle atrophy, upper and lower limbs

Occasional (5-29%)HP:0003693

Elevated circulating creatine phosphokinase

Occasional (5-29%)HP:0003236

Increased size of calf muscles

Occasional (5-29%)HP:0008981

Lower limb muscle weakness

Occasional (5-29%)HP:0007340

Shuffled walk

Occasional (5-29%)HP:0002362

Stiff joint

Occasional (5-29%)HP:0001387

Talipes

Occasional (5-29%)HP:0001883

Tremor

Occasional (5-29%)HP:0001337

Upper limb muscle weakness

Occasional (5-29%)HP:0003484

Waddling gait

Occasional (5-29%)HP:0002515

Spinal muscle wasting

HP:0007269

Related Conditions

Spinal muscular atrophy(parent)

Autosomal dominant hereditary disorder(parent)

Quick Facts

SNOMED CT: 784391002
UMLS CUI: C1854058
Fully Specified Name: Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.