Congenital myasthenic syndrome gene panel

Congenital Myasthenic Syndrome (CMS) Gene Panel

Early genetic diagnosis for inherited neuromuscular disorders.

The Congenital Myasthenic Syndrome (CMS) Gene Panel is a comprehensive genetic test designed to identify disease-causing variants in genes associated with congenital myasthenic syndromes. These rare inherited disorders affect communication between nerves and muscles, leading to muscle weakness and fatigability from infancy or childhood.

Why is this test recommended?

• Diagnoses inherited forms of congenital myasthenic syndrome.
• Differentiates CMS from autoimmune myasthenia gravis and other neuromuscular disorders.
• Supports personalized treatment decisions, as therapy varies by the affected gene.
• Assists in genetic counseling and family risk assessment.

Who should consider this test?

• Infants or children with unexplained muscle weakness.
• Individuals with fatigable weakness, drooping eyelids (ptosis), or difficulty swallowing or breathing.
• Patients with delayed motor milestones or recurrent respiratory issues.
• Individuals with a family history of congenital myasthenic syndrome.

Common symptoms of CMS

• Muscle weakness that worsens with activity
• Drooping eyelids (ptosis)
• Double vision
• Difficulty feeding or swallowing
• Breathing difficulties
• Delayed motor development
• Exercise intolerance

Sample Required

• Peripheral Blood (EDTA)

Benefits of the CMS Gene Panel

• Comprehensive analysis of clinically relevant CMS-associated genes.
• Accurate molecular diagnosis for targeted clinical management.
• Enables informed treatment selection and prognosis.
• Facilitates carrier testing and prenatal counseling for at-risk families.

When should you get tested?

Genetic testing is recommended when clinical findings suggest congenital myasthenic syndrome, particularly in patients with early-onset muscle weakness or when conventional diagnostic tests are inconclusive.

Early genetic diagnosis can help guide effective treatment, improve patient outcomes, and support informed family planning.

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