Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Loss of distal sensation
Occasional (5-29%)HP:0002936
Abducens nerve paralysis
HP:0006897
Absent tendon reflexes
HP:0001284
Amyoplasia
HP:0003634
Clinodactyly
HP:0030084
Developmental dysplasia of the hip
HP:0001385
Diaphragmatic paraparesis
HP:0009113
Disproportionately small hands
HP:0200055
Facial palsy
HP:0010628
Foot, talipes equinovarus
HP:0001762
Gowers sign
HP:0003391
Hunched back
HP:0002808
Husky voice
HP:0001609
Hyporeflexia
HP:0001265
Intoe
HP:0001840
Motor polyneuropathy
HP:0007178
Muscle fiber splitting
HP:0003555
Muscle weakness, progressive, distal
HP:0009063
No development of motor milestones
HP:0001270
Peroneal muscle atrophy
HP:0009049
Peroneal muscle weakness
HP:0011727
Progressive distal muscular atrophy
HP:0008955
Prominent swayback
HP:0003307
Respiratory function loss
HP:0002093
Scapula alata
HP:0003691
Scapular muscle atrophy
HP:0009060
Scapuloperoneal atrophy
HP:0003697
Scoliosis
HP:0002650
Spinal muscle wasting
HP:0007269
Stridor
HP:0010307
Related Conditions
Quick Facts
- SNOMED CT
- 230248006
- UMLS CUI
- C0751335
- Fully Specified Name
- Scapuloperoneal spinal muscular atrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.