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Neuromuscular Diseases

Neuromuscular diseases are a clinical group of diseases caused by a disorder in the Peripheral Nervous system which includes: the muscles, the neuro-muscular junction, the peripheral nerves in the limbs, and the motor nerve cells in the spinal cord. The more common types of neuromuscular diseases include: Amyotrophic Lateral Sclerosis (ALS), Guillain Barre Syndrome, Muscular Dystrophy, Myasthenia gravis, Myopathy and Peripheral Neuropathies.

Symptoms Associated with Select Common Neuromuscular Diseases

Individuals with Neuromuscular Diseases may experience the following symptoms.

  • Muscle Wasting
  • Twitching and Cramping
  • Numbness
  • Tingling Sensation
  • Dysphagia (difficulty of swallowing)
  • Dyspnes (difficulty in breathing)


The success in diagnosing a Neuromuscular Disease depends, in part, on the expertise of the neurologist to conduct a complete neurological exam, a meaningful Q and A session, a thorough history intake and physical examination. The following ancillary procedures assist in establishing accuracy in diagnoses of these types of diseases.

Nerve Conduction Studies (NCS) – Nerve Conduction studies involves the use of small voltage electric impulses to stimulate a nerve and activate a muscle. The relative time required to stimulate the different nerves that trigger a single muscle is noted. Peripheral Neuropathies and Myasthenia Gravis may have delayed reactions with NCS.

Needle Electromyography (EMG) –This test makes use of a needle inserted in individual muscle groups while an impulse is individually discharged and recorded via an oscilloscope that the physician hears and records. Neuropathies and Radiculopathies may be detected in this test.

Quantitative Sudomotor Autonomic Reflex Testing (QSART) – This test makes use of a computer that analyzes how well the sweat glands function and how the nerves help the glands release sweat. This will determine any disturbances in the autonomic nervous system.

Cardiovascular Autonomic Testing – With the use of some breathing techniques and a tilt table, physicians can determine abnormalities in the Autonomics by monitoring the blood pressure and the cardiac rate during the maneuvers.

Muscle Biopsy – This test will require an actual sample of a muscle from a needle biopsy, preferably performed after an Electromyographic (EMG) exam to assist in determining which muscles to review the pathology of.  The results will demonstrate the characteristics of the muscle sample to detect muscular dystrophies.

Other Possible Conditions?

Systemic conditions like Amyloidosis may mimic Neuromuscular Diseases, especially in the presence of weakness. However, a generalized effect of amyloid will globally affect the nerves and are not proximally dominant when compared to true Neuromuscular Diseases. The tissue demonstration of amyloids will give it away to more accuracy in diagnosis. Autoantibodies may sometimes over react and attack a muscle causing a kind of muscular dystrophy called dystrophinopathy.


Once an accurate diagnosis is established, treatment interventions that have gained wide clinical acceptance are, as follows.

Drug Therapy – Some individuals with a Neuromuscular Disease may do well with medications, such as, immune suppressant treatments for myasthenia gravis and other autoimmune neuromuscular junction disorders. The pain in neuropathy may be treated with anti-convulsants and anti-depressants.

Specialty Referral – Some individuals with a Neuromuscular Disease may be suffering from other problems, such as speech and vision. The active referral to a speech pathologist in rehabilitation and an ophthalmologist may help the individual significantly.

Genetic Counseling – Families with hereditary diseases should undergo family support and genetic counseling to help prevent the further expression of the disease in the bloodline.

Nutrition Counseling – Individuals with certain Neuromuscular Diseases may need special diets, specific to his or her disease. Thus, nutrition counseling may prove beneficial.


The success in the treatment of Neuromuscular Disorders greatly depends on the individual’s response to tailored therapies instituted by a neurologist and possibly a physiciatrist. Each case is unique and specific based on individual needs and the preferences of treatment providers. It must be noted also that the field of neurology is still actively researching new trends in the treatment of Neuromuscular Diseases. Thus, none of the cases are hopeless in this sense.

It is important to recognize that medications and medical procedures are associated with benefits and risks that should be discussed with your physician. It is important to recognize that all information contained on this website cannot be considered to be specific medical diagnosis, medical treatment, or medical advice. As always, you should consult with a physician regarding any medical condition. Your Health Access disclaims any liability for the decisions you make based on this information.