Amyotrophic Lateral Sclerosis (ALS) or Lou Gherig’s is a neuromuscular disease, being that it affects the nerves and the muscles. It damages motor neurons in the spine and some in the brain. ALS is considered hereditary but is not in all cases. 90% of patients suffer from SALS, or sporadic ALS and is not hereditary directly. Approximately 10% of patients are diagnosed with familial ALS (FALS) which is passed down from parents. Family history is used to distinguish between the two, if one or more person had ALS, or troubles with speech or walking, it is more likely to have FALS than SALS. FALS can be inherited in more than three ways; autosomal dominant, autosomal recessive or X-linked. Autosomal dominant is when the person affected has only one copy of the mutation, and being dominant, it was enough to affect the person and give them full blown FALS. Autosomal dominant patients have 50% chance of passing it down to an offspring. Autosomal recessive, is when both alleles have the recessive trait, also resulting in the disease. If one allele contains the recessive gene, a person is considered a carrier and will not exhibit sings of ALS. The third type of mutation is not usual in Familial ALS. In an X-linked inheritance, the gene that causes ALS is located on the X chromosome.Females are less likely to be affected by this type. Lou Gheric’s disease is caused by gene mutations. About 15% of patients suffer a mutation on the SOD1 gene and 3-4% of patients suffer from mutations on the TDP-43 or the FUS gene.
The symptoms of ALS vary, as does the progression of the disease. Initial symptoms are so slight, a lot of times they are not even noticed. Initial symptoms can be many different things. Even the smallest of actions like dropping things, tripping, weak muscles, or even as extreme as slurred speech. Muscle weakness is a very common first symptom. According to the ALS Association muscle weakness occurs in 60% of cases. Not every patient is the same, as...
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