Gamstorp-Wohlfart syndrome

Gamstorp-Wohlfart syndrome is a rare condition that affects the peripheral nerves. It is a slowly progressive disorder in which the nerve fibers, especially those that move muscles, gradually lose function. The condition can lead to symptoms including muscle stiffness, unusual muscle activity at rest, and problems with muscle relaxation. In many cases, people with this condition experience muscle contractions that can lead to contractures of the hands and feet. This disorder is characterized mainly by issues in the functioning of the peripheral nerves, which are the nerves outside the brain and spinal cord. The nerve damage in this condition is primarily observed in the motor nerves, and these changes can lead to problems with gait and muscle control. Information provided for this summary comes from clinical description and recognized disease entry sources.

People with Gamstorp-Wohlfart syndrome might notice slowly worsening weakness in the lower limbs, often leading to problems with walking. Other common symptoms include muscle stiffness, cramping, and fasciculations (small, involuntary muscle twitches). The condition may also cause spontaneous muscle activity at rest (known as myokymia) and difficulty with muscle relaxation (pseudomyotonia). In addition, the nerve problems may result in reduced or absent tendon reflexes, atrophy in the hand muscles, and sometimes mild issues with feeling in the hands and feet.

Gamstorp-Wohlfart syndrome is known to be linked to genetic changes and is inherited in an autosomal recessive manner. Abnormalities in the HINT1 gene have been identified in connection with this condition. This means that a child would need to inherit the altered gene from both parents to develop the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.