Living with Congenital myasthenic syndrome
Information, shared experiences and research connections for people living with congenital myasthenic syndrome and those who support them.
Understanding Congenital myasthenic syndrome
CMS is caused by changes in genes, most often inherited from both parents; symptoms usually start at birth or in early childhood and range from mild weakness to being unable to walk.
Signs & symptoms
Symptoms vary widely from person to person. They can include:
- Weak muscles that tire easily, often worse with activity
- Drooping eyelids or trouble moving the eyes
- Trouble feeding, chewing or swallowing
- Delays in sitting, crawling or walking
- Breathing problems, including pauses in breathing (apnea), sometimes brought on by illness or fever
- Spine or foot differences, or stiff joints
Tell your care team about new or changing symptoms.
Diagnosis
- 1Exam and history
A clinician does a physical and neurological exam and reviews symptoms and medical history.
- 2Nerve and muscle tests
Blood tests, nerve conduction studies and EMG can show how well nerves and muscles are communicating.
- 3Genetic testing
Genetic testing can help identify the specific gene change responsible for CMS.
Care & treatment
- Treatment
- Medicines may be used to help maintain or improve muscle function.
- Therapy and support
- Physical, speech and occupational therapy, assistive devices, breathing support and feeding support can all be part of care.
- Your team
- Care often brings together several specialists, such as neurologists, geneticists and eye doctors.
Discuss benefits, risks and follow-up with your care team.
Everyday life
Planning ahead can help on hard days and during illness.
- Note what seems to bring on weakness or breathing problems, such as fever, infection or physical effort.
- Keep copies of genetic test results and a current medicine list to share with every provider.
- Ask your care team for a plan for what to do if breathing or feeding gets harder during an illness.
You are more than your diagnosis
Perspectives from people navigating life with Congenital myasthenic syndrome.
Explore research for Congenital myasthenic syndrome
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- Eligibility is confirmed by the study team
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