Neurology Specific Literature Search   
 
[home][thesaurus]
    
Click Here to return To Results

 

Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992
See this aricle in Pubmed

Article Abstract
We report on a family in which both Werdnig-Hoffmann disease(severe infantile-onset spinal muscular atrophy)and chronic distal spinal muscular atrophy occurred,with apparent autosomal dominant inheritance.The female proband clinically had Werdnig-Hoffmann disease and died at ten months.In their short decade of life,the proband's father and his two brothers developed bilateral progressive atrophy and weakness in the distal parts of the legs.Their mother had no symptoms or signs of motor neuron disease but electromyography revealed distal denervation of the limbs.While the family studies suggest autosomal dominant inheritance,it is possible that the proband's condition was influenced by a maternally derived allelic or modifying trait.
 
Related Tags
(click to filter results - removes previous filter)

distal muscle atrophy
distal muscle weakness
familial
genetic neurologic disorders
motor neuron disease
progressive spinal muscular atrophy
spinal muscular atrophy
Werdnig-Hoffman disease

Click Here to return To Results