disease: Amyotrophic lateral sclerosis type 4
| id | 241 |
|---|---|
| name | Amyotrophic lateral sclerosis type 4 |
| description | Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles. |
| variant-disease |
NM_015046.5(SETX):c.8C>T (p.Thr3Ile) AND Amyotrophic lateral sclerosis type 4 NM_015046.5(SETX):c.6407G>A (p.Arg2136His) AND Amyotrophic lateral sclerosis type 4 NM_015046.5(SETX):c.1166T>C (p.Leu389Ser) AND Amyotrophic lateral sclerosis type 4 NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs) AND Amyotrophic lateral sclerosis type 4 NM_001351527.1(SETX):c.1504C>T (p.Arg502Trp) AND Amyotrophic lateral sclerosis type 4 ... 146 more |