Brain Facts

Brain Facts

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Amyotrophic Lateral Diseases

Description

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a degenerative disorder of specific nerve cells of the spinal cord, brain stem and brain. It belongs to a group of disorders known as motor neuron diseases, and results in the gradual loss of voluntary muscle control leading to paralysis. Sensory nerves and mental function are unaffected. Although the cause of ALS is unknown, current theories suggest that the neurotransmitter glutamate (a chemical that transmits signals between nerve cells) may play some role in the death of motor nerve cells. Other chemicals, such as free radical molecules and calcium, may also be involved.

ALS generally strikes patients in mid-life, and affects men more frequently than women. About 5 percent to 10 percent of cases appear to be inherited, in some cases, due to a mutation in the gene for an enzyme called copper/zinc superoxide dismutase-1 (SOD1).

Symptoms of ALS include progressive muscle weakness beginning in the limbs, muscle twitching and cramping, slowed speech becoming progressively harder to understand, difficulty in breathing and swallowing; persistent fatigue, weight loss resulting from muscle atrophy and difficulty in swallowing.


Treatment

Management needs to be multidisciplinary, involving physiotherapists (mobility and prevention of contractures); speech therapists (communication aids and swallowing assessment); occupational therapists (maintaining function); social workers (counselling and organising home support); and dietitians (particularly with percutaneous endoscopic gastrostomy feeding), all co-ordinated by the supervising neurologist or physician, collectively maximizing function and alleviating symptoms.

Although there is currently no cure for ALS, new treatments are becoming available. At present Riluzole (Rilutek) is the only FDA-approved drug for ALS, and it has a modest effect in prolonging survival (estimated to be 3-6 months). Although licensed worldwide, Riluzole was only recently made available in Australia, and is currently being re-considered for listing by the Pharmaceutical Benefits Advisory Committee. Other promising new treatments under study include: gabapentin (Neurontin); insulin like growth factor I (Myotrophin); and antioxidants.

Patients should carefully consider the option of using a mechanical respirator in the event that they become unable to breathe on their own so that decisions about emergency resuscitation can be made according to the patient's wishes in the event of a respiratory crisis (life-threatening breathing problems).


Prognosis

Patients with ALS generally live an average of three to five years after the onset of symptoms. Most eventually die from respiratory insufficiency or from lung infections that tend to occur when breathing is impaired for long periods of time.

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