Frequently Asked Questions - THE BASICS OF MYOTONIA

Myotonia Congenita is a rare genetic disorder that affects the skeletal muscles. It is classified as a neuromuscular condition because it makes muscle relaxation after voluntary movement difficult.

Myotonia Congenita is caused by mutations in the CLCN1 gene, which affects the chloride ion channels in muscle cells. These mutations disrupt the normal function of these channels, leading to the symptoms of the condition.

Myotonia Congenita can be inherited in two ways: autosomal dominant (Thomsen disease) or autosomal recessive (Becker disease). Autosomal dominant means one copy of the mutated gene is sufficient to cause the disorder, while autosomal recessive requires two copies.

Key symptoms include:

• Difficulty relaxing muscles after movement
• Muscle stiffness
• Episodes of muscle-locking
• Muscle hypertrophy (enlargement)
• Fatigue

Diagnosis typically involves a combination of:

• Clinical examination
• Electromyography (EMG) tests
• Genetic testing to identify mutations in the CLCN1 gene
• Family history evaluation

Common triggers include:

• Sudden movements after rest
• Cold temperatures
• Stress / Anxiety / Nervousness
• Overexertion

No, Myotonia Congenita is not typically life-threatening. However, its symptoms can significantly impact quality of life and require ongoing management.

While there is no cure, treatment options include:

• Medications such as mexiletine or other sodium channel blockers
• Physical therapy to maintain muscle flexibility
• Lifestyle adjustments to manage symptoms

Yes, regular, moderate exercise can help improve muscle function and reduce stiffness. However, individuals should avoid overexertion and consult a healthcare professional for a tailored plan.

• Thomsen disease is the autosomal dominant form and generally milder.
• Becker disease is the autosomal recessive form, often more severe and with later onset.

Yes, children can inherit the condition if one or both parents carry the mutated gene, depending on whether it is the dominant or recessive form.

Challenges include:

• Physical limitations from muscle stiffness
• Social and emotional impact due to visibility of symptoms
• Managing flare-ups triggered by stress or cold weather

Yes, there are online and in-person support groups where individuals and families can connect, share experiences, and access resources, just like this online community.

No, Myotonia Congenita does not typically reduce life expectancy. Most individuals lead long, productive lives with proper management.

Pain is not a primary symptom, but muscle stiffness and cramping can sometimes lead to discomfort, particularly after prolonged activity or inactivity.

Currently, there is no cure for Myotonia Congenita. Treatment focuses on managing symptoms and improving quality of life.

Myotonia Congenita is considered a rare condition, affecting an estimated 1 in 100,000 people worldwide.

Symptoms can vary throughout life, but Myotonia Congenita is generally stable. It does not progressively worsen like some other neuromuscular disorders.

A multidisciplinary team often manages Myotonia Congenita, including:

• Neurologists
• Physical therapists
• Genetic counselors
• Primary care physicians

Helpful changes include:

• Regular exercise tailored to individual abilities
• Warm environments to reduce stiffness
• Stress management techniques
• Balanced nutrition to support overall health