Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a dangerous neurological disorder that leads to death of its victim within a few years after the first symptoms. The disease occurs in both men and women of older age, usually among 40-60 year of life. Fortunately the disease is very rare.


The causes of this disease are not yet known. Genetics may play some role but family inheritance was proven in only about 10% of cases – the majority of new cases occurred without any positive family history present. There is possible an altered ratio of neurotransmitters, i.e. nerve signals transmitting substances in brain of ill people. More precisely there was reported an abnormally high concentration of brain glutamate. It is however difficult to decide if it is the cause or just accompanying signs of ALS. Another possible interesting fact is that some (but not all) patients have genetically determined disorders of the SOD enzyme (superoxide dismutase) which is important in reduction of so called oxidative stress.


There is a gradual decrease of nerve cell (neuron) numbers in the brain and spinal cord. At first there are no symptoms but later manifests become visible – muscle twitching (fasciculation), muscle cramps, muscle weakness etc. The patients’ often first complaint is about tongue twitching. Muscle atrophy develops over time, i.e. there is a graduate loss of muscle mass. Difficulties begin to escalate and all body muscles can be affected. This may not only lead to muscle paralysis of limbs, but also disorders of speech, swallowing disorders and to respiration disorders (by respiratory muscles failure). Consciousness and intelligence of the vast majority of patients are fully maintained until death but that is possibly more a burden than an advantage.


Complications are obvious. Respiratory disorders usually force doctors to use artificial lung ventilation, atrophy of immobilized muscles appears, and the digestive tract is unable to swallow food. The patient becomes a susceptible target for recurrent infections, especially pneumonias that are the main reason of death by people with ASL. The disease is 100% fatal.


Diagnosis is determined mostly by elimination. Patients with symptoms described above must be carefully examined by a neurologist who will perform a variety of tests to rule out other diseases – blood tests, electromyography, brain computed tomography or magnetic resonance imaging, spinal tap etc.


Without knowledge of disease causes it is unfortunately impossible to prevent this condition.


There is no treatment of amyotrophic lateral sclerosis. Experiments with drugs that reduce glutamate levels have bee tried but there are no significant results. Treatment is rather supportive than curative and consists of a comprehensive approach –rehabilitation and muscle exercise, psychological or psychiatric care, nursing care, consistent feeding of patients (often using a PEG device), infection control etc. However even the best treatment can not stop the disease progression and inevitable death.

Jiri Stefanek, MD  Author of texts: Jiri Stefanek, MD
 Sources: basic text sources