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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome

Congenital myasthenic syndrome

Synonyms
Congenital Myasthenic Syndromes
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).\n\nCongenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk. [from MedlinePlus Genetics]

Available tests

34 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS24, MYO9A
    Summary: myosin IXA

  • Also known as: CIC, CMS23, CTP, D2L2AD, SEA, SLC20A3, SLC25A1
    Summary: solute carrier family 25 member 1

  • Also known as: CHT, CHT1, CMS20, DHMNVP, HMN7A, HMND7, hCHT1, SLC5A7
    Summary: solute carrier family 5 member 7

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