Dejerine-Sottas Disease

What is Dejerine-Sottas Disease (DS)?

DS is a neurological disorder that causes damage to the peripheral nerves, which carry signals from the brain and spinal cord to muscles, and relay sensations, such as pain and touch, to the brain and spinal cord from the rest of the body; generally, any peripheral nerve disorder that resembles Charcot-Marie-Tooth (CMT) disease but is more severe is called Dejerine-Sottas disease.

What is the cause of Dejerine-Sottas Disease?

Ds is caused by defects in the genes for proteins found in axons, fibres that carry electrical signals between the brain and spinal cord and the rest of the body, or in the genes for proteins found in myelin, a coating on axons that insulates and nourishes them. DS presents in infancy or early childhood.

What are the symptoms?

The symptoms of DS include:

  • weakness, especially in the lower legs, forearms, feet and hands
  • muscle wasting as the disease progresses
  • reduced muscle tone
  • loss of sensation, particularly in the lower legs, forearms, feet and hands
  • curvature of the spine
  • foot deformities
  • Delay in acquisition of motor skills in childhood
  • occasionally, limitation of eye movements or other eye problems
  • occasionally, mild hearing loss

How does Dejerine-Sottas Disease progress?

The progression of DS is slow until teens, when progression of the condition may speed up. Unfortunately, severe disability may eventually occur.

Drug warnings

The use of certain prescription drugs or excess alcohol can lead to acquired neuropathy, and thus might exacerbate CMT. Case studies have shown that the chemotherapy drug vincristine can cause rapid deterioration in people with CMT. For more information about drugs to avoid, please see page 2.

Anaesthetic concerns

Though anaesthesia is not contradicted, it is assumed there is a slightly elevated risk of malignant hyperthemia because Dejerine-Sottas is a neuromuscular disease. Anesthetic agents that do not trigger MH should be used whenever possible. The surgical team be well versed in neuromuscular disorders and preferably well practiced in doing surgery on such patients. Patients with Dejerine-Sottas seem to take slightly longer to wake up from general anaesthetics, and should be kept warm during surgery and in the recovery room as they are less able to regulate their temperatures.

People with muscle disorders may have more fragile muscles, subject to breaking down under stress. The stress of surgery itself, of lying in an awkward position with one part of the body pressing on another (necessary in some procedures), of having a tourniquet applied during an operation, of experiencing postoperative shivering, may all contribute to complications in some patients, experts say.

What causes Dejerine-Sottas Disease ?

DS is an inherited condition and follows what is known as an autosomal dominant mode of inheritance. This means DS can be inherited through a faulty gene contributed by either parent and there is a 50% chance of having a second affected child. DS can also be inherited by another mode of inheritance known as autosomal recessive. This means both parents both need to be carriers of DS for their child to be affected with the condition. There is 25% chance that any other children may also be affect with DS.

Additional Information

DS Link