Main Image

About Acetazolamide-responsive myotonia

What is Acetazolamide-responsive myotonia?

Acetazolamide-responsive myotonia is a rare genetic disorder characterized by muscle stiffness and spasms. It is caused by a mutation in the CLCN1 gene, which is responsible for the production of a chloride channel in muscle cells. Symptoms of this disorder include muscle stiffness, cramps, and spasms, which can be triggered by exercise or cold temperatures. Treatment with the drug acetazolamide can help reduce the symptoms of this disorder.

What are the symptoms of Acetazolamide-responsive myotonia?

The symptoms of Acetazolamide-responsive myotonia include:

-Muscle Stiffness and cramping
-Difficulty relaxing muscles after contraction
-Muscle fatigue
-Difficulty with fine motor skills
-Difficulty with speech
-Difficulty swallowing
-Difficulty breathing
-Pain in the muscles

What are the causes of Acetazolamide-responsive myotonia?

Acetazolamide-responsive myotonia is caused by mutations in the CLCN1 gene, which encodes the chloride channel protein ClC-1. Mutations in this gene lead to a decrease in the activity of the chloride channel, resulting in an increase in the excitability of muscle cells and causing myotonia.

What are the treatments for Acetazolamide-responsive myotonia?

1. Increasing the dose of Acetazolamide
2. Adding other medications such as mexiletine, quinine, or phenytoin
3. Physical therapy to help improve muscle strength and coordination
4. Botulinum toxin injections to reduce muscle stiffness
5. Electrical stimulation to reduce muscle stiffness
6. Surgery to remove the affected muscle or nerve

What are the risk factors for Acetazolamide-responsive myotonia?

1. Autosomal dominant inheritance
2. Mutations in the CLCN1 gene
3. Age of onset between 10 and 30 years
4. Male predominance
5. Proximal muscle weakness
6. Myotonia of the face, neck, and upper extremities
7. Cold-induced myotonia
8. Exercise-induced myotonia
9. Positive response to acetazolamide

Is there a cure/medications for Acetazolamide-responsive myotonia?

Yes, there are medications available to treat Acetazolamide-responsive myotonia. These include quinine, mexiletine, and acetazolamide. Additionally, physical therapy and lifestyle modifications such as avoiding cold temperatures and strenuous activities can help reduce symptoms.