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Test ID: MUSK Muscle-Specific Kinase (MuSK) Autoantibody, Serum

Useful For

Diagnosis of autoimmune muscle-specific kinase (MuSK) myasthenia gravis

 

Second-order test to aid in the diagnosis of autoimmune myasthenia gravis when first-line serologic tests are negative

 

Establishing a quantitative baseline value for MuSK antibodies that allows comparison with future levels if weakness is worsening

Testing Algorithm

See Myasthenia Gravis Evaluation with MuSK Reflex Algorithm in Special Instructions.

Reporting Name

MuSK Autoantibody, S

Specimen Type

Serum


Specimen Required


Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Specimen Volume: 1.5 mL


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Refrigerated (preferred) 28 days
  Frozen  28 days
  Ambient  72 hours

Clinical Information

Fatigable weakness due to impaired synaptic transmission at the neuromuscular junction is characteristic of myasthenia gravis (MG). The diagnosis is made by clinical and electromyographic criteria. Positive autoimmune serology must be interpreted in the clinical and electrophysiological context and response to anticholinesterase medication. Most cases are autoimmune and are caused by IgG autoantibodies binding to critical postsynaptic membrane molecules (nicotinic acetylcholine receptor or its interacting proteins).(1) Autoantibody detection frequency is lowest in patients with weakness confined to extraocular muscles (71% muscle acetylcholine receptor: AChR binding).(2) Mayo Clinic Laboratories' first-line serological evaluation detects muscle AChR antibody in 92% of nonimmunosuppressed patients with generalized weakness due to MG. Muscle-specific kinase (MuSK) antibody is detectable in more than one-third of those seronegative for muscle AChR antibody (less than 4% of all patients).(3) Physiologically, MuSK is involved in integrating and stabilizing AChR clusters in the motor endplate. MuSK is activated when the nerve-derived proteoglycan agrin binds to its receptor, lipoprotein-related protein 4 (LRP4). Antibodies to LRP4 itself have been described in rare patients.(1)

 

Six percent of nonimmunosuppressed patients with generalized MG lack demonstrable AChR or MuSK antibodies (double seronegative). Other rare autoantibodies no doubt remain to be discovered in such cases. However, as in autoimmune AChR MG and MuSK MG, testing for common organ-specific and nonorgan-specific autoantibodies is a valuable ancillary investigation in evaluating seronegative acquired generalized MG. General serological testing, coupled with family or personal history, will disclose autoimmune phenomena in 77% of those cases.(3) These disorders may include thyroid disease, type 1 diabetes, vitiligo, premature greying, rheumatoid arthritis, or lupus. Testing may also reveal antinuclear antibodies, glutamic acid decarboxylase (GAD65) antibodies, thyroperoxidase/thyroglobulin antibodies, or gastric parietal cell antibodies.(3) Objective improvement in strength following a therapeutic trial of plasmapheresis or intravenous immune globulin would justify consideration of long-term immunosuppression.

 

Females are generally affected by autoimmune MuSK MG more often than males. Onset can occur at any age (pediatric to elderly). Patients may derive limited benefit from anticholinesterase medication. The thymus is normal, and patients are generally not benefited by thymectomy. Antibody-lowering therapies are effective. Bulbar, facial, and respiratory weakness are prominent, and crises are common.(1,4)

Reference Values

≤0.02 nmol/L

Interpretation

A positive result, in the appropriate clinical context, confirms the diagnosis of autoimmune muscle-specific kinase myasthenia gravis.

 

Seropositivity justifies consideration of immunotherapy.

Clinical Reference

1. Li Y, Arora Y, Levin K: Myasthenia gravis: Newer therapies offer sustained improvement. Cleve Clin J Med 2013 Nov;80(11):711-721

2. Lennon VA: Serological profile of myasthenia gravis and distinction from the Lambert-Eaton myasthenic syndrome. Neurology 1997;48 (Suppl 5):S23-S27

3. Chan KH, Lachance DH, Harper CM, Lennon VA: Frequency of seronegativity in adult-acquired generalized myasthenia gravis. Muscle Nerve 2007 Nov;36(5):651-658

4. Skjei KL, Lennon VA, Kuntz NL: Muscle specific kinase autoimmune myasthenia gravis in children: A case series. Neuromuscul Disord 2013 Nov;23(11):874-882

Day(s) and Time(s) Performed

Monday through Friday; 6 a.m.

Analytic Time

3 days

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

83519

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MUSK MuSK Autoantibody, S 51716-9

 

Result ID Test Result Name Result LOINC Value
64277 MuSK Autoantibody, S 51716-9

Method Name

Radioimmunoassay (RIA)

Forms

If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Mayo Clinic Laboratories | Neurology Catalog Additional Information:

mml-Neuroimmunology, mml-Neuromuscular, mml-Pediatric, mml-Neuro-ophthalmology, mml-Neuroimmunology-Evals