Scapuloperoneal spinal muscular atrophy

Symptoms of Scapuloperoneal spinal muscular atrophy

Clinical features: Imported from Human Phenotype Ontology (HPO)

• Abnormality of head or neck
• Spasmodic torticollis
• Weakness of face muscles
• Abnormality of limbs
• Clinodactyly
• Metatarsus adductus
• Peroneal muscle atrophy
• Peroneal muscle weakness
• Scapular muscle atrophy
• Small hand
• Talipes equinovarus
• Abnormality of the musculature ...

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Genetics of Scapuloperoneal spinal muscular atrophy

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) Autosomal dominant inheritance (HPO) ...Source: GTR (NCBI/NIH)¹ ...

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Names and Terminology

Synonyms: Amyotrophy, neurogenic scapuloperoneal, New England type ; Scapuloperoneal Form of Spinal Muscular Atrophy ...Source: GTR (NCBI/NIH)² ...

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References

1. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0751335/ 
2. ibid.

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