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Most neuromuscular diseases (NMDs) are incurable. However, an effective rehabilitation

program can help maintain a patients quality of life (QOL), as well as maximize the patients
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 patients mobility.
Endurance (aerobic) exercise may yield functional improvement and greater independence in
activities of daily living (ADLs). Advancements in noninvasive positive-pressure ventilation
technology have greatly reduced pulmonary morbidity in NMDs. Cardiac complications,
though severe in some NMDs, often respond to medical management.
Psychosocial and vocational issues should be addressed as part of the management of NMDs.
Such comprehensive management usually requires the efforts of a multidisciplinary team.
This level of care is frequently provided in a tertiary care setting. This article discusses the
key aspects of this type of care, which is critical to maximizing the quality of life for these

Definition and classification

An exact definition of what constitutes an NMD is important. Many clinicians who do not
work directly in this field, even highly astute ones, incorrectly describe patients with NMDs
as having muscular sclerosis (MS). In fact, MS is a demyelinating disease of the CNS; it is
not an NMD, even though the symptoms of MS may sometimes superficially resemble the
symptoms associated with NMDs.
NMDs 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, ultimately weakening the muscle.
NMDs also include peripheral neuropathies such as Charcot-Marie-Tooth disease (CMT),
which 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 (MG).
Finally, NMDs may directly affect all forms of muscle, particularly skeletal and cardiac
muscle. This stage of muscular deterioration is what causes the frequent misapplication of the
term muscular dystrophy. The term dystrophy (from Greek dys-, difficult or abnormal, and
trophe, nutrition) is also a misnomer based on descriptions from over 150 years ago, when
lack of growth nutrients was blamed for damaging muscle. These disorders classified as
muscular dystrophies fall under the broader category of myopathies (myo-, muscle, pathos,
The term muscular dystrophy (MD) refers to a heterogeneous group of genetic disorders that
typically result in progressive degeneration followed by incomplete regeneration of skeletal
muscles, ultimately resulting in the loss of contractile tissue. In contrast to MD, the term

myopathy generally refers to acquired or congenital muscle disorders that typically do not
demonstrate ongoing cycles of degeneration/regeneration, but still result in weakness and
disability due to loss of contractile function. Some MDs and myopathies affect cardiac and
smooth muscle, in addition to other organs, including the brain.
The major forms of MD include Duchenne MD (DMD), Becker MD (BMD), limb-girdle MD
(LGMD), facioscapulohumeral dystrophy (FSHD), myotonic dystrophy type 1 (DM1),
myotonic dystrophy type 2 (DM2), congenital MD (CMD), oculopharyngeal MD (OPMD),
distal MD (DMD), and Emery-Dreifuss MD (EDMD).
Some forms of MD appear at birth, while others become apparent during infancy, early
childhood, adolescence, middle age, or later. The phenotypic severity is largely determined
by the age at which the disorder first occurs, with early-onset disease typically resulting in
more disability compared with late-onset disease. MD may result from spontaneous
mutations, occurring de novo in an otherwise clear family line, or may be inherited. Forms of
inheritance include autosomal dominant and recessive or sex linked.

Diagnosis and management

Accurate confirmation of the diagnosis is critical and involves thorough clinical evaluation,
as well as electrodiagnostic studies and, often, muscle or nerve biopsy. For many of the
diseases, 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 the potential problems that may develop. The
physician should then assess the patients and familys 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
Comprehensive management of this 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 the following professionals, among



Physical, occupational, and speech therapists

Social workers

Vocational counselors


Treatment should be goal-oriented, with clear input regarding the patients expectations and
personal goals. Although NMDs are not curable, they 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,
including the following (among others):

Muscular Dystrophy Association

Amyotrophic Lateral Sclerosis Association

Charcot-Marie-Tooth Association

Facioscapulohumeral Society

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.