Disease name: Amyotrophic Lateral Sclerosis (ALS)
ICD-10 Disease Code: G12.21 - Amyotrophic lateral sclerosis
ICD-10 Disease Group: G12 - Spinal muscular atrophy and related syndromes
General description:Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease characterised by progressive muscular paralysis caused by the degeneration of motor neurons in the brain and spinal cord. In individuals with ALS, the nervous system attacks the nerve cells that are responsible for transmitting messages from the brain and spinal cord to voluntary muscles. The disease initially manifests as mild muscular problems, but progresses over time to severe and debilitating muscle paralysis.
There are two types of ALS: a spinal form (lib onset) and a bulbar onset form. Disease onset typically begins between the ages of 40 and 60 years and progresses rapidly, often becoming fatal within 2-3 years for bulbar onset cases and 3-5 years for cases of limb onset ALS.
Mutations:The majority of cases of ALS are sporadic and have no discernible genetic mutations. However, around 5-10% of cases are familial, and of these 20% involve a mutation of the SOD1 gene, 2-5% involve mutations of the TARDBP gene, and 1-2% involve mutations of the VCP gene.
Furthermore, both SOD1 mutations and TARDBP genes have been detected in some apparently sporadic cases of ALS.
Disease frequency:The prevalence of ALS is estimated at around 1 in 20,000.
Symptoms:Initial symptoms include difficulty walking or running, difficulty writing and speech impairments. Muscle weakness progresses until full paralysis. Eventually muscle paralysis spreads to the chest where breathing becomes difficult. A breathing apparatus may help, but most patients with ALS will die from respiratory failure.
Treatment:There is currently no cure for ALS and treatment involves managing symptoms and discomfort. Riluzole has been shown to extend survival in ALS. Non-invasive ventilation can prolong survival and improve quality of life.
Sources:- https://www.icd10data.com/
- https://www.orpha.net/consor/cgi-bin/index.php
- https://rarediseases.org/
- https://medlineplus.gov/genetics/
- https://www.cdc.gov/
