Werdnig-Hoffmann disease

Term ID

DOID:13137

Synonyms

• hereditary motor neuropathy proximal type I
• HMN (Hereditary motor Neuropathy) Proximal type I
• infantile muscular atrophy
• progressive muscular atrophy of infancy
• SMA1
• Spinal muscular atrophy 1

Definition

A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541

References

• GARD:7883
• MESH:D015417
• MIM:253300
• UMLS_CUI:C0043116

Ontology

Human Disease   ( DOID:13137 )