Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Werdnig-Hoffman disease (also known as “Severe infantile spinal muscular atrophy”, or “spinal muscular atrophy type I”) is an autosomal recessive neuromuscular disease. It is the most severe form of spinal muscular atrophy, which is one of a number of neuromuscular diseases classified as a type of muscular dystrophy.
Werdnig-Hoffman affects the lower motor neurons only.
It has been linked to an abnormal survival motor neuron (SMN) gene. ub
It is named for Johann Hoffmann and Guido Werdnig.[1][2][3]
It is evident before birth or within the first few months of life. There may be a reduction in fetal movement in the final months of pregnancy. Affected children never sit or stand unassisted and will require respiratory support to survive before the age of 2. Other symptoms include:
Key clinical point is hypotonia associated with absent reflexes in early infancy
[tubepress mode=’tag’, tagValue=’Werdnig-Hoffman disease’]