NEURO-MUSCULAR REHABILITATION
Most neuromuscular diseases (NMDs) are incurable. However, an effective rehabilitation program can help maintain a patient's quality of life (QOL), as well as maximize the patient's physical and psychosocial functions.
An effective rehabilitation program can also minimize secondary medical comorbidity, prevent or limit physical deformity, and allow the patient to integrate into society.
Modalities such as range of motion and strengthening exercise, along with bracing and appropriate surgical intervention, may prolong ambulation.
Today, adaptive devices such as wheelchairs and lifts are now often interfaced with computer technology, providing better strategies for improving the patient's mobility.
Endurance (aerobic) exercise may cause functional improvement and more independence in activities of daily living. Advancements in noninvasive positive pressure ventilation technology have greatly reduced pulmonary morbidity in NMDs. Cardiac complications, although severe in some NMDs, often respond to medical management. Psychosocial and vocational issues should be addressed as part of the management of NMDs.
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This level of comprehensive management usually requires a multidisciplinary team consisting of physicians, nurses, therapists, social and vocational counselors, and psychologists. This level of care is frequently provided in a tertiary care setting.
An exact definition of a neuromuscular disease or disorder is important. Even astute clinicians who do not work directly in this field often confuse the definition and refer to patients with NMDs as having muscular sclerosis (MS). This application is a common and gross misnomer. MS is a demyelinating disease of the CNS and is not an NMD, even though the symptoms of a patient with MS may sometimes superficially resemble the symptoms associated with NMDs.
Neuromuscular disorders are a group of diseases that affect any part of the nerve and muscle. These disorders include motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), which may involve motor neurons in the brain, spinal cord, and periphery, and ultimately weaken the muscle.
Neuromuscular disorders also include peripheral neuropathies such as Charcot-Marie-Tooth disease (CMT) that affect not only motor but also sensory nerves. Peripheral neuropathies start at the level of the dorsal root ganglion by definition. The neuromuscular junction may also be directly involved in diseases such as myasthenia gravis.
Finally, NMDs may directly affect all forms of muscle, particularly skeletal and cardiac muscle. This stage of NMD-associated muscular deterioration is what causes the frequent misapplication of the term muscular dystrophy.
The term dystrophy (taken from the Greek myo, meaning muscle, and dys-troph, meaning abnormal growth) is also a misnomer based on initial descriptions over 150 years ago, when a lack of proper growth nutrients was blamed for damaging muscle. These disorders classified as muscular dystrophies fall under the broader category of myopathies (again Greek myo, and pathos, meaning disease).
The dystrophies are now known to consist largely of genetic defects resulting from structural damage to the muscle because of a missing protein product as the result of a DNA abnormality. Other forms of myopathy may involve damage to the muscle's mitochondria or contractile filaments. The lack of a metabolic enzyme, such as in maltase deficiency (Pompe disease), may be a cause of myopathies.
An accurate confirmation of the diagnosis is critical and involves thorough clinical evaluation, as well as electrodiagnostic studies, and, often, a muscle or nerve biopsy. For many of the diseases, a DNA analysis of leukocytes or other cellular components obtained through a blood draw is commercially available and contributes greatly to the accuracy of the diagnosis.
Once the diagnosis has been confirmed, the patient and family members should be educated thoroughly about the expected outcome and what problems may develop. The physician should then assess the patient's and family's goals and orchestrate a palliative and rehabilitative program that matches those goals. Enrollment in an experimental protocol should be encouraged and facilitated, furthering science and providing some hope for the patient.
Comprehensive management of the complex group of disorders is an arduous task under the best of circumstances. For this reason, a multidisciplinary approach, as mentioned above, is much more effective and takes advantage of the expertise of many clinicians, rather than placing the burden on one.
This team would consist of physicians; nurses; physical, occupational, and speech therapists; social workers; vocational counselors; and psychologists, among others.
Treatment should be goal oriented, with clear input regarding the patient's expectations and personal goals. While not curable, these diseases are treatable and do respond to rehabilitation. Ideally, because of the significant mobility problems associated with most NMDs, all key clinic personnel should be available at each visit. Tertiary care medical centers in larger urban areas can usually provide this type of service.
A number of organizations sponsor research and clinical care for people with NMDs; these include the Muscular Dystrophy Association, the Amyotrophic Lateral Sclerosis Association, the Charcot-Marie-Tooth Association, and the Facioscapulohumeral Society, among others. Governmental agencies that support research in NMDs include the National Institute on Disability and Rehabilitation Research, a division of the Department of Education, and the National Institutes of Health.