AMYOTROPHIC lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a medical condition that affects the motor neurone, that is nerve cells, in the brain and spinal cord, which are responsible for voluntary movement of muscle.

This disease is named after Lou Gehrig, a renowned New York Yankees baseball player who suffered from this debilitating disease.

The nerve cells progressively degenerate and then die and the brain later cannot control the actions of the muscles and so the patient becomes paralysed.

This disease affects a little over 5,000 people per year in the USA, with a mortality rate of two per 100,000 people per year. It shows no race or ethnic predisposition.

SYMPTOMS

Symptoms of ALS include increasing spasticity or stiffness of the muscles on one or more limb, cramping, progressive weakness so the person stumbles or trips dragging the leg. The person soon is unable to button their shirt, write or turn a cork to open a bottle. There is difficulty in speech, swallowing and breathing, the areas under voluntary control, as the muscles that control these functions without stimulation dies. The reflexes can also become extremely brisk. In most patients, mental functions remain intact or are subtly affected, but there may be a component of dementia in some patients.

DIAGNOSIS

Diagnosing ALS can be difficult initially. Several conditions may present similarly.

The patient must show damage to the upper motor and lower motor neurone – upper and lower motor nerve cells. Sometimes tests such as nerve conduction velocity tests and tests of the electrical activity in the muscles are used. The disease progression vary from patient to patient and may spread from one area of the body to another, for example from difficulty swallowing to one arm weakness to the other arm, or difficulty speaking or eating to the inability to use the upper limbs then being unable to walk. The younger the patient at diagnosis and if it affects only one limb, then the slower the disease tends to progress.

TREATMENT

There is no cure for ALS but riluzole has been shown to slow the progression by months and may lengthen the time the patient would need support from a ventilator. Other drugs are being tested but are not yet FDA approved. Other medications such as muscle relaxants, drugs that dry up saliva or for depression may be used to relieve the symptoms of ALS and enhance their quality of life.

Management is multidisciplinary. Speech therapists are used to improve communication until amplifiers and hand signals have to be employed.

Physical and occupational therapists are also used to assist in the management of these patients. This enables the patients to be less dependent, improve strength and prevent complications. Nutritionists are also employed to teach the patients and their relatives how to prepare and administer small nutritious meals and later on a feeding tube is inserted by the gastroenterologist to reduce choking on the food.

Most persons diagnosed with ALS die within three to five years from the first symptoms were experienced and they usually die from being unable to breathe well. Ventilators are used to assist with breathing through an endotracheal tube and then later a tracheostomy tube, tubes in the trachea-windpipe which does not slow down the disease. Ventilators are also quite expensive and are often unavailable, the patient is usually hooked once placed on the machine, and will most likely need it for life.

The patient with ALS will need emotional, psychological, social, and financial support as this disease progresses and will later require 24-hour nursing care. The outcome of ALS is most times death from complications such as choking, respiratory failure and severe infections from bedsores.

Dr Romayne Edwards is a consultant emergency physician at the University Hospital of the West Indies and an associate lecturer at the University of the West Indies.