Amyotrophic lateral sclerosis
Motor neurone disease, amyotrophic lateral sclerosis and Lou Gehrig's disease are synonymous terms. The disease occurs sporadically and is rarely familial. Among genetic disorders, a defect in copper/zinc superoxide dismutase has been found. The neuropathological hallmark is the loss of cells in the anterior horn of the spinal cord, together with degeneration of the pyramidal and corticobulbar tracts and of the cells in the precentral gyrus.
The clinical picture often becomes apparent only after a longer period of observation, and diagnosis is often a process of exclusion, so it is important to see a specialist doctor with experience in diagnosing, treating and rehabilitating such patients. Weakness and atrophy of the muscles of the limbs and trunk are seen, including the respiratory muscles. The bulbar muscles – that is, the tongue and throat muscles – are also affected. Weakness progresses relatively slowly over months. Characteristic signs are fasciculations, markedly brisk reflexes and signs of pyramidal tract damage; the sensory component is relatively spared, and painful cramps and soreness are common. Atrophy of the intrinsic hand muscles, predominantly distal, is often noticed over a long period of observation, when fasciculations are also seen. Gradually, the atrophy also spreads proximally. Spasticity and brisk reflexes are more pronounced than would be expected with such marked atrophy and weakness.
A number of diseases and conditions can resemble amyotrophic lateral sclerosis, so an extensive work-up is needed to rule out other diseases and confirm motor neurone disease. Imaging such as MRI must include not only the brain but also the spinal cord, above all the cervical segment; electromyography with nerve conduction studies (EMNG), motor evoked potentials (MEP), lung function tests, laboratory tests and other tests as needed should also be carried out. Treatment is long-term and complex, and includes medication as well as physical medicine and rehabilitation.
Cooperation between the specialist physiatrist and the specialist neurologist is important. Physical modalities and exercise therapy should start very early and gradually, together with adequate nutrition and breathing exercises. Signs of respiratory insufficiency require oxygen and a tracheostomy. A powered wheelchair and other electronic communication aids, which a specialist physiatrist can recommend, will ease the patient's difficulties. Monitoring of the condition, adjustment of medication and well-dosed exercise therapy are needed.
Faktor Zdravlje Polyclinic has top specialists in physical medicine and rehabilitation who keep up with the latest developments in neurorehabilitation, while our trained therapists and kinesiologists will support you while you exercise.
