Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent Achilles reflex
Always present (100%)HP:0003438
Absent patellar reflexes
Always present (100%)HP:0006844
EMG: chronic denervation signs
Always present (100%)HP:0003444
Hip-girdle muscle weakness
Always present (100%)HP:0003749
Lower limb muscle weakness
Always present (100%)HP:0007340
Pelvic girdle amyotrophy
Always present (100%)HP:0008946
Proximal limb muscle weakness
Always present (100%)HP:0003701
Proximal lower limb muscle atrophy
Always present (100%)HP:0008956
Shoulder weakness
Always present (100%)HP:0003547
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Loss of ambulation
Frequent (30-79%)HP:0002505
Muscle spasm
Frequent (30-79%)HP:0003394
Shoulder girdle muscle wasting
Frequent (30-79%)HP:0003724
Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord
HP:0002398
Hyporeflexia
HP:0001265
Limb fasciculation
HP:0007289
Spinal muscle wasting
HP:0007269
Tongue fasciculations/fibrillations
HP:0001308
tremors in hands
HP:0002378
Related Conditions
Quick Facts
- SNOMED CT
- 54280009
- UMLS CUI
- C0152109
- Fully Specified Name
- Kugelberg-Welander disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.