Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal erection
Very frequent (80-99%)HP:0100639
Abnormality of movement
Very frequent (80-99%)HP:0100022
Decreased fertility
Very frequent (80-99%)HP:0000144
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Dysphonia
Very frequent (80-99%)HP:0001618
Gait disturbance
Very frequent (80-99%)HP:0001288
Gynaecomastia
Very frequent (80-99%)HP:0000771
Hyporeflexia
Very frequent (80-99%)HP:0001265
Neurogenic muscle atrophy, especially in the lower limbs
Very frequent (80-99%)HP:0003202
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Abnormal circulating lipid concentration
Occasional (5-29%)HP:0003119
NIDDM
Occasional (5-29%)HP:0005978
Testicular degeneration
Occasional (5-29%)HP:0000029
Abnormal mouth
HP:0000153
Bulbar palsies
HP:0001283
Deglutition disorder
HP:0002015
Elevated serum creatine phosphokinase
HP:0003236
Increased size of calf muscles
HP:0008981
Limb muscle weakness
HP:0003690
Muscle fasciculation
HP:0002380
Muscle spasm
HP:0003394
Peripheral neuropathy
HP:0009830
Sensory neuropathy
HP:0000763
Tremor
HP:0001337
Quick Facts
- SNOMED CT
- 230253001
- UMLS CUI
- C0393547
- Fully Specified Name
- Bulbospinal neuronopathy (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.