Thomsen's disease

Thomsen's Disease is a rare, inherited neuromuscular disorder characterized by muscle stiffness (myotonia) and muscle weakness. It is also known as Thomsen's Myotonia Congenita and Thomsen's Syndrome. The disease is named after the Danish physician Julius Thomsen, who first described the condition in 1876.

Etiology

Thomsen's Disease is caused by mutations in the CLCN1 gene, which provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. The mutations in the CLCN1 gene lead to the production of an abnormal chloride channel, which disrupts the flow of chloride ions into skeletal muscle cells. This disruption in ion flow leads to the characteristic features of Thomsen's Disease.

Symptoms

The primary symptom of Thomsen's Disease is myotonia, a condition in which the muscles are unable to relax after a voluntary contraction. This can lead to muscle stiffness and weakness. Other symptoms may include difficulty swallowing (dysphagia), muscle pain (myalgia), and fatigue.

Diagnosis

Diagnosis of Thomsen's Disease is based on the clinical symptoms, family history, and genetic testing. Electromyography (EMG) may also be used to confirm the diagnosis.

Treatment

There is currently no cure for Thomsen's Disease. Treatment is aimed at managing the symptoms and may include physical therapy, medication to reduce muscle stiffness, and in some cases, surgery.

Prognosis

The prognosis for individuals with Thomsen's Disease is generally good. Most individuals with the condition have a normal life expectancy and are able to lead productive lives with some modifications to accommodate their muscle stiffness and weakness.

See Also

• Myotonia Congenita
• Neuromuscular Disorders
• Genetic Disorders

References

• National Institute of Neurological Disorders and Stroke
• Genetics Home Reference

NIH genetic and rare disease info

• NIH info on Thomsen's disease

Thomsen's disease is a rare disease.