NINDS:43 Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.
MalaCards based summary: Werdnig-Hoffman Disease, also known as hmn proximal type i, is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Werdnig-Hoffman Disease is SMN1 (survival of motor neuron 1, telomeric). Affiliated tissues include spinal cord.
Diseases related to Werdnig-Hoffman Disease via text searches within MalaCards or GeneCards Suite gene sharing:
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MalaCards organs/tissues related to Werdnig-Hoffman Disease:31
Articles related to Werdnig-Hoffman Disease:(show all 11)
Search GEO for disease gene expression data for Werdnig-Hoffman Disease.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet