Congenital myasthenic syndromes
Dernière mise à jour 13 Feb 2026
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
Congenital myasthenic syndromes are a group of conditions that are characterised by weak muscles that tire easily (myasthenia). In people with these conditions, myasthenia typically begins shortly after birth or during early childhood. The most commonly affected muscles are the muscles in the head and neck (bulbar muscles) that control chewing and swallowing, speech, and facial expressions; the muscles that move the eyes and eyelids; and the muscles in the arms and legs. However, any of the muscles used for movement (skeletal muscles) can be affected.
Description
Congenital myasthenic syndromes are a group of conditions that are characterised by weak muscles that tire easily (myasthenia). In people with these conditions, myasthenia typically begins shortly after birth or during early childhood. The most commonly affected muscles are the muscles in the head and neck (bulbar muscles) that control chewing and swallowing, speech, and facial expressions; the muscles that move the eyes and eyelids; and the muscles in the arms and legs. However, any of the muscles used for movement (skeletal muscles) can be affected.
In individuals with congenital myasthenic syndromes, episodes of severe weakness or breathing problems may be triggered by fevers, infection, or tiring physical activity. The severity of the myasthenia varies greatly, from minor muscle weakness to severe weakness that may require wheelchair assistance.
Babies with congenital myasthenic syndromes may have feeding difficulties. Some affected babies may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis). In severe instances, a lack of movement before birth can lead to joint deformities (contractures) that cause joint stiffness (arthrogryposis) and impair movement.
Children with congenital myasthenic syndromes may have speech problems (dysarthria) or swallowing difficulties (dysphagia). The development of motor skills, such as crawling or walking, may be delayed in these children.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
CMS
Congenital myasthenia
Congenital myasthenic syndrome
Related patient information and medicines
Patient information leaflet
Syndrome de Marfan
Syndrome de Marfan (named after Dr Antoine Marfan, the French doctor who first described it in 1896) is a genetic disorder which people are born with and which lasts lifelong. Marfan syndrome can affect different people in different ways. What caus... Syndrome de Marfan est caused by a change (mutation) dans le génétiques material on one of your chromosomes.
Patient information leaflet
syndrome d'Ehlers-Danlos
La Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. What are the Ehlers-Danlos syndromes. The Ehlers Danlos syndromes (EDS) are a group of conditions which are usually (although not always) inherited from.
Patient information leaflet
Myasthénie grave
Myasthenia gravis (MG) is a condition where muscles become easily tired and weak. It is due to a problem with how the nerves stimulate the muscles to tighten (contract). Wh... Myasthenia gravis is an autoimmune disease. This means that the immune system (which normally protects the body from infections) mistakenly attacks itself. How common is.
Patient information leaflet
Syndrome de Charles Bonnet
Syndrome de Charles Bonnet is a common condition experienced by people who are losing, or have lost, their sight. It involves seeing things which are not really there (having visual hallucinations). The hallucinations are most marked in low light or when relaxing and are often complicated scenes involving faces, children and wild animals. People.
Patient information leaflet
Côte cervicale
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. About 1 in 200 people are born with an extra rib called a cervical rib. Because this is something that you.
Patient information leaflet
Cri du chat syndrome
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. What is cri du chat syndrome. Cri-du-chat is a rare.
Lectures complémentaires et références
- Congenital myasthenic syndromes; MedlinePlus, National Library of Medicine.
- Abicht A, Muller JS, Lochmuller H. Congenital Myasthenic Syndromes Overview. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1168/
- Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Topf A, Helito PVP, Heise CO, Moreno CAM, Silva AMS, Kouyoumdjian JA, Morita MDP, Reed UC, Lochmuller H, Zanoteli E. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. Eur J Neurol. 2022 Mar;29(3):833-842. doi: 10.1111/ene.15173. Epub 2021 Nov 17.
- Finsterer J. Congenital myasthenic syndromes. Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5.
- Ohno K, Ito M, Ohkawara B. Review of 40 genes causing congenital myasthenic syndromes. J Hum Genet. 2025 Jun 18. doi: 10.1038/s10038-025-01355-9. Online ahead of print.
- Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730.
- Prior DE, Ghosh PS. Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features. J Child Neurol. 2021 Jul;36(8):610-617. doi: 10.1177/0883073820987755. Epub 2021 Jan 20.
- Ramdas S, Beeson D, Dong YY. Congenital myasthenic syndromes: increasingly complex. Curr Opin Neurol. 2024 Oct 1;37(5):493-501. doi: 10.1097/WCO.0000000000001300. Epub 2024 Jul 25.
- Spendiff S, Lochmuller H, Maselli RA. Congenital myasthenic syndromes. Int Rev Neurobiol. 2025;182:253-274. doi: 10.1016/bs.irn.2025.04.025. Epub 2025 May 16.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.