FALS

(Familia Amyotrophic Lateral Sclerosis)

Chromosomes

Chromosome 21 is affected in people with FALS

It is transmitted by superoxide dismutase 1 (SOD1), fused in sarcoma (FUS), and TAR DNA binding protein. (TARDBP or TDP43)

Life Expectancy & Treatments

Average survival time after FALS symptom onset is 2 to 3 years. 20% survive 5 years; 10% survive 10 or more years.


There is currently no treatment, but they are testing ISIS-SOD1-Rx which will hopefully block production of SOD1 protein. Arimoclomol and Pyrimethamine are also being tested.

Symptoms, Diagnosis, & Frequency

Symptoms

- muscle weakness in hands, arms, legs, muscles of speech, swallowing or breathing

- cramping or twitching mostly in hands and feet
- impaired use of arms and legs
- “thick speech” or difficulty speaking
- in advanced cases: shortness of breath & trouble swallowing and breathing

Diagnosis

Usually a genetic test is needed which requires either blood drawn or spitting into a special tube. The genetic test can help figure out how you got the disease and help inform your family members because it's genetic.

Frequency

10% of all ALS cases are FALS & if the genetic mutation that causes FALS is in the parent then the child has a 50% chance of acquiring the disease.
The Theory of Everything TRAILER 1 (2014) - Eddie Redmayne, Felicity Jones Movie HD