| Dred_ID | RD00016 |
| OMIM ID | 105400 |
| Disease name | Amyotrophic Lateral Sclerosis 1 |
| Alternative names | ALS1, ALS
|
| Category | Genetic diseases, Rare diseases |
| Phenotype | OMIM: Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. Rowland and Shneider (2001) and Kunst (2004) provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD); see 105500. Ranganathan et al. (2020) provided a detailed review of the genes involved in different forms of ALS with FTD, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegenerastaion. Familial ALS is distinct from a form of ALS with dementia reported in cases on Guam (105500) (Espinosa et al., 1962; Husquinet and Franck, 1980), in which the histology is different and dementia and parkinsonism complicate the clinical picture.
UniProtKB/Swiss-Prot 71 Amyotrophic lateral sclerosis 1: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
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| Miscellaneouse | genetic heterogeneity
approximately 10% of als cases are familial |
| Prevalence | Amyotrophic Lateral Sclerosis: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-9/100000 (Ireland),1-9/100000 (Finland),1-9/100000 (Canada),1-9/100000 (United States),1-9/100000 (Uruguay),1-9/100000 (Denmark),1-9/100000 (Italy),1-9/100000 (France),1-9/100000 (Spain),1-9/100000 (Norway),1-9/1000000 (Taiwan, Province of China),1-9/100000 (Taiwan, Province of China),1-9/100000 (Faroe Islands),1-9/1000000 (Iran, Islamic Republic of),1-9/100000 (Iran, Islamic Republic of),1-9/100000 (Specific population),1-5/10000 (Specific population) [source: MalaCards] |
| Inheritance | Autosomal recessive
autosomal dominant |
| Anticipation | Yes |
| Evidence | Weak |