Amyotrophic lateral sclerosis 21

Common Name(s)

Amyotrophic lateral sclerosis 21, Distal myopathy 2

Amyotrophic lateral sclerosis 21 (ALS21) is a rare form of ALS characterized by muscle weakness in the throat, lower legs and forearms, usually beginning in adulthood. Distal refers to the fact that the muscles involved are those not close to the center of the body. Initial symptoms usually involve muscle weakness in the ankles, and possibly the hands, wrists, and shoulders. The muscles weakness may occur only one side of the body at first, but eventually may affect both sides. The affected individual may eventually have trouble walking or lifting his or her fingers. Other symptoms include a weak, breathy, or nasal voice and difficulty swallowing due to a weakness of muscles in the vocal cords and throat. It has been noted in at least some affected individuals that the vocal cord weakness may progress to respiratory failure.

ALS21 is caused by different changes or mutations in the matrin-3 gene (MATR3) on chromosome 5q31. It is inherited or passed through families in an autosomal dominant manner which means the individual only needs one copy of the affected gene from his or her parents to have this condition. Each child of an affected individual has a 50% chance of inheriting the changed gene and therefore the condition. A genetic counselor can provide a better understanding of the underlying genetics and recurrence risks. If you or a family member has been diagnosed with ALS21 talk with your doctor about the latest treatment options.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Amyotrophic lateral sclerosis 21" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Amyotrophic lateral sclerosis 21" returned 3 free, full-text research articles on human participants. First 3 results:

[Acoustic analysis for 21 patients with amyotrophic lateral sclerosis complaining of dysarthria].
 

Author(s): Hua-shun Xie, Fu-rong Ma, Dong-sheng Fan, Li-ping Wang, Yan Yan, Pei-quan Lu

Journal: Beijing Da Xue Xue Bao. 2014 Oct;46(5):751-5.

 

To observe the characteristics of acoustic parameters of 21 patients with amyotrophic lateral sclerosis (ALS) complaining of dysarthria and to explore the possibility and clinical value of Multi-Dimensional Voice Program (MDVP) on aseessing the patient's voice.

Last Updated: 31 Dec 1969

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Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosis.
 

Author(s): A King, H Houlden, J Hardy, R Lane, A Chancellor, J de Belleroche

Journal: J. Med. Genet.. 1993 Apr;30(4):318.

 

Familial amyotrophic lateral sclerosis (FALS) has recently been shown to be linked to chromosome 21 markers in a subset of families. However, we were unable to show linkage between FALS and chromosome 21 markers which flank the putative FALS locus in UK families.

Last Updated: 31 Dec 1969

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Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.
 

Author(s): T Siddique, D A Figlewicz, M A Pericak-Vance, J L Haines, G Rouleau, A J Jeffers, P Sapp, W Y Hung, J Bebout, D McKenna-Yasek

Journal: N. Engl. J. Med.. 1991 May;324(20):1381-4.

 

Amyotrophic lateral sclerosis is a progressive neurologic disorder that commonly results in paralysis and death. Despite more than a century of research, no cause of, cure for, or means of preventing this disorder has been found. In a minority of cases, it is familial and inherited ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Amyotrophic lateral sclerosis 21" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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