Definition:
Werdnigg-Hoffman Disease otherwise known as the Sever Infantile Spinal Muscular Atropy or simply Spinal Muscular Atropy Type I is an sutosomal recessive condition that presents either neonatally as floppy baby or with progressive weakness and wating within the first year of life owing to widespread lower motor neuron degeneration (Souhami, R. and Maxham,J. (2002) Textbook on Medicine, p 1391).
Diagnosis:
Diagnosis of the condition includes the undergoing Electro-Myelo Gram or EMG which will show Fibrillation & Muscle Denervation and the use of Serum Createnine-Kinase which may either be normal or increased.
Treatment:
Treatment of the disease varies according to the symptoms that manifests. It may include physical therapy, orthotic surgery and rehabilitation.
Symptoms and Signs:
Symptoms includes feeble movements of the arms and legs, difficulties in swallowing and impaired breathing. It also manifest through fasciculations of the tounge, marked hypotonia in proximal and distal muscles, weak cry and areflexive extremities.
Causes:
Werdnig-Hoffman disease is an inherited autosomal condition.
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