Conditions / Nervous system
Werdnig-Hoffmann disease
info · Nervous system
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
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.
Signs and symptoms
- Poor head control
- EMG: neuropathic changes
- Areflexia
- Generalized hypotonia
- Respiratory insufficiency
- Ventricular septal defect
- Proximal lower limb muscle weakness
- Tongue fasciculations
- Respiratory failure
- Proximal amyotrophy
Also known as: HMN (Hereditary motor Neuropathy) Proximal type I; SMA1; Spinal muscular atrophy 1; hereditary motor neuropathy proximal type I; infantile muscular atrophy