Neuromuscular Panel

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000602545.1
Last updated: 2022-11-07
Test version history
- 602545.1, last updated: 2022-11-07

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Congenital myasthenic syndrome 4B
Offered by Centogene US, LLC - The Rare Disease Company

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

Imported from OMIM

Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).

Imported from Human Phenotype Ontology (HPO)

Ptosis
Hypotonia
Ophthalmoplegia
Respiratory insufficiency
Muscle weakness
Feeding difficulties
Neck muscle weakness
Weakness of facial musculature
Easy fatigability
Neonatal hypotonia
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
Anti-acetylcholine receptor antibody positivity
Fatigable weakness of skeletal muscles

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Conditions tested

Not provided

This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Neuromuscular Panel

Indication

Clinical summary

Imported from OMIM

Clinical features