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|Amyotrophic lateral sclerosis|
|Synonyms||Lou Gehrig's disease, Charcot disease|
|An MRI with increased signal in the posterior part of the internal capsule which can be tracked to the motor cortex consistent with the diagnosis of ALS|
|Classification and external resources|
|eMedicine||neuro/14 emerg/24 pmr/10|
|Patient UK||Amyotrophic lateral sclerosis|
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease and motor neurone disease (MND), is a specific disease that causes the death of neurons which control voluntary muscles. Some also use the term "motor neuron disease" for a group of conditions of which ALS is the most common. ALS is characterized by stiff muscles, muscle twitching, and gradually worsening weakness due to muscles decreasing in size. This results in difficulty in speaking, swallowing, and eventually breathing.
The cause is not known in 90% to 95% of cases. About 5–10% of cases are inherited from a person's parents. About half of these genetic cases are due to one of two specific genes. The diagnosis is based on a person's signs and symptoms with testing done to rule out other potential causes.
No cure for ALS is known. A medication called riluzole may extend life by about two to three months.Non-invasive ventilation may result in both improved quality and length of life. The disease usually starts around the age of 60 and in inherited cases around the age of 50. The average survival from onset to death is two to four years. About 10% survive longer than 10 years. Most die from respiratory failure. In much of the world, rates of ALS are unknown. In Europe and the United States the disease affects about two people per 100,000 per year.
Descriptions of the disease date back to at least 1824 by Charles Bell. In 1869, the connection between the symptoms and the underlying neurological problems was first described by Jean-Martin Charcot, who in 1874 began using the term amyotrophic lateral sclerosis. It became well known in the United States in the 20th century when in 1939 it affected the baseball player Lou Gehrig and later worldwide when physicist Stephen Hawking, diagnosed in 1963 and expected to die within two years, became famous. In 2014, videos of the ice bucket challenge went viral on the World Wide Web and increased public awareness of the condition.
|ALS1||105400||SOD1||21q22.1||autosomal dominant (?), autosomal recessive (?)||The most common form of familial ALS|
|ALS2||205100||ALS2||2q33.1||autosomal recessive (?)||Juvenile-onset|
|ALS4||602433||SETX||9q34.13||autosomal dominant (?)|
|ALS5||602099||SPG11||15q21.1||autosomal recessive (?)||Juvenile onset|
|ALS8||608627||VAPB||20q13.3||autosomal dominant (?)|
|ALS10||612069||TARDBP||1p36.2||autosomal dominant (?)||ALS with or without frontotemporal dementia|
|ALS13||183090||ATXN2||12q24.12||autosomal dominant (?)||Spinocerebellar ataxia 2|
|ALS14||613954||VCP||9p13.3||(?)||Recent new study shows strong link in ALS mechanism|
|ALS15||300857||UBQLN2||Xp11.21||X-linked dominant (?)||Described in one family|
|ALS16||614373||SIGMAR1||9p13.3||autosomal recessive (?)||Juvenile onset, very rare, described only in one family|
|ALS17||614696||CHMP2B||3p11.2||autosomal dominant (?)||Very rare, reported only in a handful of people|
|ALS18||614808||PFN1||17p13.2||(?)||Very rare, described only in a handful of Chinese families|
|ALS19||615515||ERBB4||2q34||autosomal dominant (?)||Very rare, as of late 2013 described only in four people|
|ALS20||615426||HNRNPA1||12q13.13||(?)||Very rare, as of late 2013 described only in two people|
|ALS21||606070||MATR3||5q31.2||autosomal dominant (?)||Very rare. Formerly known as "distal myopathy type 2" (MPD2) and "vocal cord and pharyngeal dysfunction with distal myopathy" (VCPDM)|
|ALS22||616208||TUBA4A||2q35||autosomal dominant (?)||"Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia"|
|FTDALS1||105550||C9orf72||9p21.2||autosomal dominant (?)||"Frontotemporal dementia and/or amyotrophic lateral sclerosis type 1". Accounts for around 6% of ALS cases among white Europeans|
|FTDALS2||615911||CHCHD10||22q11.23||autosomal dominant (?)||"Frontotemporal dementia and/or amyotrophic lateral sclerosis type 2"|
|FTDALS3||616437||SQSTM1||5q35.3||autosomal dominant (?)||"Frontotemporal dementia and/or amyotrophic lateral sclerosis type 3"|
|FTDALS4||616439||TBK1||12q14.2||autosomal dominant (?)||"Frontotemporal dementia and/or amyotrophic lateral sclerosis type 4"|
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