Neuromuscular diseases are a heterogeneous group of conditions that affect the voluntary (skeletal) muscles, the peripheral nerves that control them, or the neuromuscular junction. Symptoms may include muscle weakness (progressive or non-progressive), muscle wasting, cramping, stiffness, and impaired heart/lung function. Occasionally, neuromuscular diseases may involve other organ systems such as the brain, cardiovascular, or endocrine system. They may present at any age, from congenital (present at birth) to advanced age.

Genetic neuromuscular diseases are individually rare, but together are estimated to affect 1 in 3,000 individuals. (Laing. (2012), Crit Rev Clin Lab Sci, 49:33-48.)

Testing for Genetic and Immunologic Causes of Neuromuscular Disease

Athena Diagnostics' Neuromuscular Advanced Evaluations are organized by phenotype in order to make test selection easy and efficient. Panels were designed based on a comprehensive peer reviewed publication of neuromuscular genes (Kaplan), with genes chosen based on neuromuscular phenotypes according to the Online Mendelian Inheritance in Man (OMIM) database.

Athena Diagnostics also offers testing for myasthenia gravis antibodies including AChR, MuSK, and Titin.

  • Acetylcholine Receptor (AChR) Antibody: Accounts for 80-85% of generalized myasthenia gravis and 50-75% of ocular myasthenia gravis. Approximately 50% of AChR-positive patients have thymus hyperplasia, and 10-15% have a thymoma. Patients with AChR-positive myasthenia gravis may also have autoantibodies to titin or the ryanodine receptor (RyR) (Leite MI et al.)
  • Muscle-specific kinase (MuSK) Antibody: Accounts for 8-10% of all myasthenia gravis, and 20-50% of AChR-negative generalized myasthenia gravis. MuSK-positive myasthenia gravis patients often show bulbar, facial, neck, and respiratory muscle weakness, muscle atrophy, and frequent myasthenic crisis (Hoch W et al.)
  • Titin Antibody: Observed in 20-40% of myasthenia gravis and 60-80% of late-onset (50 years or older) patients. 75% of individuals with antibodies to titin have an abnormality of the thymus, and 10% have a thymoma. (Scherer K et al., Bedlack RS et al.Suzuki S et al.)
Our staff of genetic counselors and laboratory directors is available to assist you in the ordering process.


Further Educational Resources

Letters of Medical Necessity

Medical Affairs Resources

Athena Diagnostics Client Services - (800) 394-4493 Option 2

Athena Diagnostics Genetic Counselors -

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