What is Myotonia Congenita?

Myotonia congenita is a very rare inherited condition characterized by myotonia. This keeps your muscles from relaxing normally after they contract. For instance, your child may be unable to release a toy immediately after they grasp it. Myotonia congenita starts during childhood or adolescence. It can lead to other symptoms, such as muscle stiffness and muscle overgrowth (hypertrophy).

Healthcare professionals categorize it as a non-dystrophic myotonia disorder. That means the anatomy of your child's muscles is normal, but the electrical process controlling your child's muscle contraction is not normal. Other disorders with myotonia, referred to as dystrophic myotonias, involve a derangement in the muscle anatomy.

Any variation in the way your child's body functions can lead to concern and panic. But understand that myotonia congenita is a condition that usually doesn't worsen. Physical therapy and other adaptations can make the symptoms manageable.

Types of Myotonia Congenita

There are two forms of myotonia congenita:

• Becker disease: the most common type of myotonia congenita. It causes attacks of muscle weakness, often in your child’s arms and legs. Becker disease symptoms usually appear between the ages of 4 and 12. Becker's disease is different from Becker's muscular dystrophy.
• Thomsen disease: a rarer, milder form of myotonia congenita. Symptoms typically begin within the first few months of life and continue through 2 to 3 years of age.

What are the symptoms of myotonia congenita?

The primary symptom of myotonia congenita is slow relaxation of a muscle after it has contracted — a condition referred to as myotonia. Myotonia is worse following a resting period or in cold weather.

Additionally, myotonia congenita symptoms you might observe in your child are:

• Feeding problems, choking, gagging, and reflux — particularly during early childhood
• Clumsiness and frequent falls (even after walking is established)
• Double vision or lazy eye
• Enlarged muscles (hypertrophy), causing an athlete's build
• Muscle spasms
• Stiffness in your child's legs (stiffness that may improve with activity — warm-up phenomenon)
• Weakness, if your child has Becker disease
• Scoliosis, or improper curving of the backbone

Males experience more intense symptoms than do females. However, symptoms do increase during pregnancy and menstruation.

Thomsen disease symptoms usually begin earlier and initially affect your child's face and arms. Symptoms of Becker disease usually begin later and initially affect your child's legs.

Why does Myotonia Congenita occur?

Myotonia congenita results from a mutation in the CLCN1 gene. It affects the chloride channels on your child's muscle membrane, causing problems with muscle relaxation after contraction.

Becker disease (BD) is inherited in an autosomal recessive pattern. This means that both parents are carriers of the gene change and can pass it to their child. The parents don't have any symptoms of the condition.

Thomsen disease (TD) is an autosomal dominant disorder. This implies that only one biological parent must carry the genetic alteration to pass the condition on to their child.

How is Myotonia Congenita diagnosed?

Health professionals typically diagnose myotonia congenita in childhood. Your doctor will question your child's signs and your family's history. They will perform a test on your child to check for muscle problems, including:

• Asking your child to quickly open and close their eyes
• Observing whether your child can release an object or open and close their fist quickly
• Hitting on your child's muscles with a little hammer (percussor) to determine if the muscles contract

Your child's healthcare provider might also order specific tests to rule out other conditions that bring about the same symptoms or to make a diagnosis of myotonia congenita. Tests might include:

• Creatine kinase (CK) blood test: Myotonia congenita can increase levels of CK.
• Electromyography (EMG): This examination records electrical activity from your muscles. It may be able to tell the difference between a muscle disease and a nerve disease. But the EMG result can't tell the two forms of myotonia congenita apart.
• Genetic testing: This test identifies gene mutations that lead to myotonia congenita.
• Muscle biopsy: Biopsies of myotonia congenita are typically normal but may exhibit subtle abnormalities.

How is Myotonia Congenita treated?

There is no treatment for myotonia congenita, and your child might not require treatment for it. Gentle exercise after rest may help decrease muscle stiffness. Physical therapy to keep the muscles working may also be recommended by your child's healthcare provider.

In some cases, a doctor might prescribe ranolazine or mexiletine to reduce muscle stiffness and cramps. Other drugs might also be helpful, such as carbamazepine and lamotrigine. However, they typically produce unwanted side effects.

Other measures your child and family may take to assist with the symptoms and prevention of myotonia congenita triggers include:

Not exposing themselves to cold temperatures.

Having regular exercise, your child's symptoms may disappear once their muscles have warmed up (the warm-up phenomenon)

Stress management

Adjusting their diet, if necessary, by giving foods that are easy for them to swallow, to lower their chances of choking

Can I prevent myotonia congenita?

Myotonia congenita occurs as a result of genetic mutations, so there's nothing you can do to avoid it. If you have a family history of the condition in your biological family or you yourself have it and are considering having biological children, speak with a genetic counselor. They can discuss your risk of passing on the condition.

What is the prognosis for a person with myotonia congenita?

Myotonia congenita typically doesn't get worse with time — your child's symptoms should remain largely the same throughout their life. Physical therapy and avoiding triggers can enable your child to be active and carry on normal activities. Individuals with myotonia congenita can engage in sports and otherwise lead normal lives. In Becker disease, your child can develop some mild weakness as they age.

What is the life expectancy for a person with myotonia congenita?

Individuals with myotonia congenita have a normal life expectancy. The illness does not alter other systems of the body.

When should my child visit their doctor?

Myotonia congenita is a long-term condition. Though it doesn't typically get worse or alter, your child may need to visit their doctor regularly if they are treated with medication. Your child's physical therapy requirements can also change as they grow up.

Keep in mind that myotonia congenita can influence your child's response to anesthesia. You ought to notify their provider if they are having a surgery scheduled and inform the anesthesiologist who will be responsible for them during the procedure.

Why choose Tender Palm Super Specialty Hospital for Myotonia Congenita Treatment in Lucknow, India?

Tender Palm Super-Speciality Hospital offers advanced Myotonia Congenita treatment in Lucknow, India, at an affordable cost. We have a team of experienced neurologists, neuromuscular specialists, genetic disorder experts, and rehabilitation specialists who provide accurate diagnosis, personalized care, and advanced treatment for Myotonia Congenita. Our neurosciences team has extensive experience in successfully treating Myotonia Congenita in Lucknow, India.

To seek an Expert Consultation for Myotonia Congenita treatment in Lucknow, India

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