What is congenital myasthenic syndrome?

CMS is a term used to refer to a set of conditions involving fatigable muscle weakness resulting from an inherited disorder of the junction between nerve and muscle. The onset usually occurs in early childhood, although it may be apparent for the first time at adolescence or adult life.

What are the signs and symptoms of congenital myasthenic syndrome?

The signs and symptoms of congenital myasthenic syndrome vary based on type but could include:

• Muscle weakness and fatigue that may be activated by exercise
• A limitation or an absence of muscle control
• Drooping eyelids or double vision
• Speech difficulties, including slurred speech or difficulty speaking
• Difficulty swallowing

What is the age of onset for congenital myasthenic syndrome?

Most congenital myasthenic syndrome symptoms start early in life. A symptom that may indicate your child has CMS is delayed development of motor skills such as crawling and walking. Other symptoms of CMS begin later, for example, during adolescence or adulthood.

What causes congenital myasthenic syndrome?

A genetic mutation causes congenital myasthenic syndrome. Some of the gene mutations involved include, but are not limited to, the following:

• CHRNE.
• RAPSN.
• CHAT.
• COLQ.
• DOK7.

These genes provide instructions for your cells to produce proteins that help signals pass between cells at the neuromuscular junction. Signalling is how your nerves and muscles communicate across a bridge (the neuromuscular junction). When your nerve cells signal to your muscle cells, your nerves tell your muscles to move.

If a genetic mutation happens, your cells don't have the instructions they need to send signals or messages across the bridge. This leads to symptoms of CMS.

What are the risk factors for congenital myasthenic syndrome?

Anyone can develop congenital myasthenic syndrome. You re more at risk if it runs in your biological family history.

What are the complications of congenital myasthenic syndrome?

Congenital myasthenic syndrome complications may include:

• Feeding difficulties.
• Stiff muscles.
• Delayed developmental milestones (motor skills).
• Cannot walk.
• Pauses breathing (apnea).
• Seizures.
• Intellectual disability.
• Neuropathy.
• Metabolic abnormalities.

How is congenital myasthenic syndrome diagnosed?

A healthcare provider will diagnose congenital myasthenic syndrome after a physical and neurological exam. They will discuss your symptoms and take a complete medical history. If they suspect CMS, they may ask you to perform a physical activity under their supervision to observe how your body reacts, like walking up stairs, for example. They may offer tests to rule out conditions with similar symptoms, like:

• Blood tests.
• Nerve conduction study.
• Electromyography.
• A genetic test

Genetic testing can help your healthcare provider identify the gene change causing your symptoms. Sometimes a healthcare provider will take a small sample of your blood to examine your DNA. The gene change may allow your provider to determine what type of CMS you have and where within your neuromuscular junction has an issue.

How is congenital myasthenic syndrome treated?

There is no cure for CMS, but there are treatments to help you manage your symptoms. Medications usually are effective in maintaining or improving your muscle function. Your provider may suggest:

• Cholinergic agonists (pyridostigmine, amifampridine or 3,4-diaminopyridine).
• Open channel blockers (fluoxetine or quinidine).
• Adrenergic agonists (salbutamol or ephedrine).

While physical activity worsens your symptoms, your physician may recommend consultation with a physiotherapist to help find light activities and exercises that would be safe to maintain good health and prevent your muscles from stiffness.

You should use assistive devices such as a wheelchair, especially when traveling, to move around and to avoid injury.

Are there side effects of the medications?

The side effects are different for the different drugs. Some of them include:

• Abdominal cramps.
• Allergic reaction.
• Breathing difficulties.
• Diarrhea.
• Fatigue.
• Excessive production of saliva or sweating.
• Vision change.

Discuss any possible side effect with your physician before beginning treatment to make a well-informed decision regarding your health.

Is congenital myasthenic syndrome preventable?

It's not known how congenital myasthenic syndrome might be prevented. If you're thinking of having another child, discuss your risk of having a child with a genetic disorder with a health care provider, and then discuss whether to have genetic testing.

If you will be starting a new medication, bring this up with your provider to discuss having CMS first. Because of a risk of worsening symptoms, your healthcare provider may encourage you to look into alternative medications for antibiotics, cardiovascular drugs, or psychiatric medications.

What is the prognosis for congenital myasthenic syndrome?

The symptoms of congenital myasthenic syndrome range from mild to severe. It may have very little effect on your life, while others may experience life-threatening symptoms like breathing difficulties. Your provider can give you the best outlook for your situation.

Life expectancy of congenital myasthenic syndrome

The life expectancy of a person with congenital myasthenic syndrome may or may not be affected. If your symptoms are mild, CMS will not have a significant impact on your health. CMS can affect your life expectancy if symptoms impact the muscles that regulate your breathing. Your care team will help you manage your symptoms to prevent life-threatening complications.

When should I see a doctor?

Seek medical attention right away if you or your child has symptoms of congenital myasthenic syndrome, such as muscle weakness, when exercising or performing other physical activities. If your child has trouble eating or doesn't reach certain developmental milestones at appropriate ages, inform the child's provider.

Immediately contact your local emergency number if your child is having difficulty breathing, or if the skin, lips, or nails have turned pale or blueish gray (cyanosis).

What questions should I ask my doctor?

• What type of CMS?
• What type of treatment do you recommend?
• Are there any side effects from the treatment?
• Can my child play sports or activities if diagnosed with CMS?

Why Tender Palm Super-Speciality Hospital for congenital myasthenic syndrome?

Tender Palm Hospital, owned by doctors, is renowned for attracting the most experienced professional in the country, with the finest neurologist and neurosurgeons specialized in congenital myasthenic syndrome. Tender Palm stands out as the premier Neurology hospital in Lucknow, India. Boasting cutting-edge infrastructure and advanced technology, Tender Palm ensures top-notch medical care for its patients.

To Book an appointment for congenital myasthenic syndrome

Call us at +91-9076972161
Email at care@tenderpalm.com

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