Thomsen and Becker disease is a rare inherited disorder that affects the muscles. It is caused by a mutation in the gene that codes for the protein ryanodine receptor 1 (RYR1). Symptoms of the disorder include muscle weakness, cramping, and stiffness. In some cases, the disorder can cause respiratory failure and death.

The symptoms of Thomsen and Becker disease vary from person to person, but generally include muscle weakness, muscle cramps, and muscle twitching. Other symptoms may include difficulty walking, fatigue, and difficulty swallowing. In some cases, people with Thomsen and Becker disease may also experience joint pain, joint stiffness, and joint swelling.

Thomsen and Becker disease are both caused by mutations in the CLCN1 gene, which is responsible for producing a protein called chloride channel 1. This protein is responsible for controlling the flow of chloride ions in and out of muscle cells. Mutations in this gene can cause the chloride channels to malfunction, leading to the symptoms of Thomsen and Becker disease.

The treatments for Thomsen and Becker disease depend on the severity of the symptoms. Generally, treatments focus on managing the symptoms and preventing further muscle weakness. Treatment options may include physical therapy, medications to reduce muscle spasms, and lifestyle changes such as avoiding strenuous activities. In some cases, surgery may be recommended to correct any underlying structural issues.

The primary risk factor for Thomsen and Becker disease is a family history of the disorder. Other risk factors include having a parent who is a carrier of the genetic mutation that causes the disorder, being of Northern European descent, and having a family history of other forms of muscular dystrophy.

At this time, there is no cure for either Thomsen or Becker disease. However, medications can be used to help manage the symptoms of both diseases. These medications include anticonvulsants, muscle relaxants, and medications to help with muscle spasms. Physical therapy and lifestyle changes can also help to manage the symptoms of both diseases.