Motor neuron disease

Motor neuron disease is rare, affecting 1-2 people in every 100,000 worldwide each year. In this disease, also known as amyotrophic lateral sclerosis, degeneration of the nerves involved in muscular activity results in progressive wasting of the muscles and weakness. There are several types of motor neuron disease. Some affect mainly the spinal nerves, while other types also affect the brain. The condition is not painful, does not affect bowel or bladder function, and does not usually affect the intellect or the senses, such as sight.

Steven Hawkins is the one of few people to ever live passed 5 years with MND.  He has lived for around 40 years

The cause of motor neuron disease is unknown. Genetic factors are involved because, in about 1 in 10 cases, the disease runs in the family. The disease is slightly more common in men and usually develops after the age of 40.

What are the symptoms?

Initially, weakness and wasting develop over a few months and usually affect the muscles of the hands, arms, or legs. Other early symptoms may include:

- Twitching movements in the muscles.
- Stiffness and muscle cramps.
- Difficulty in carrying out twisting movements, such as unscrewing bottle tops and turning keys.

As the disease progresses, other symptoms may include:

- Dragging one foot or a tendency to stumble when walking.
- Difficulty in climbing stairs or getting up from low chairs.

Less commonly, the muscles of the mouth and throat are involved, and may cause slurred speech, hoarseness, and difficulty in swallowing.

An affected person may have mood swings and may become anxious and depressed. If the muscles involved in breathing and swallowing are affected, small particles of food may enter the lungs and cause recurrent chest infections and possibly pneumonia. The head may fall forwards because the muscles in the neck are too weak to support it. Eventually, weakness of the muscles that control respiration may cause difficulty in breathing.

How is diagnosed?

There is no specific test to diagnose motor neuron disease. However, electromyography may be carried out to detect a decrease in electrical activity in the muscles. Additional tests may be used to exclude other possible causes of the symptoms. For example, MRI or CT scanning of the brain and neck may be used to exclude a local problem such as a tumour or cervical spondylosis.

What is the treatment?

At present, no treatment can significantly slow down the progression of motor neuron disease, although a new drug called riluzole may have a small effect. Treatment for symptoms may include antidepressants to relieve depression and antibiotics to treat chest infections. If the person is having difficulty in swallowing, a gastrostomy maybe created surgically. This is an opening through which a permanent feeding tube is inserted directly into the stomach or the small intestine.

Usually, a team of specialists provide support and care for an affected person and members of the family. Counseling may be offered to both. The person affected by the disease may have physiotherapy to keep joints and muscles supple and may be given aids to help with activities such as eating and walking. A speech therapist can supply communication aids to help with speech difficulties and advise on swallowing problems. Joining a self-help group is often helpful to person with motor neuron disease and his or her family.

The outlook for motor neuron disease is variable, with approximately 2 in 10 affected people alive 5 years after diagnosis. About 1 in 10 affected people survives more than 10 years.