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De Jerine-Sottas Disease
Sunday, 18 January 2004
Sunday, 28 November 2004
CMT Type III, Progressive Hypertrophic Interstitial Neuropathy, Hereditary Motor Sensory Neuropath

What

De Jerine-Sottas Disease is a rare genetic disorder of the nerves which progressively affects a person’s ability to walk and move. This disorder is caused by the break down of the protective covering called the myelin sheath which surrounds the nerves. This breakdown is called demyelination and affects the ability of nerves to function correctly. Dejerine-Sottas disease is characterized by progressive weakness, a decrease in muscle size, and loss of feeling.

Who

De Jerine-Sottas Disease is found in all ethnic groups, and males and females are affected equally. This disease is considered a genetic disease because it is caused by a gene that has been changed or mutated. Dejerine-Sottas disease is thought to be inherited in an autosomal dominant manner. This means that if a child receives an abnormal gene from an affected parent, that child will also have this disease. It is important to understand that these diseases are not contagious and that it is no one’s fault that this happened.

Signs and Symptoms

The symptoms of De Jerine-Sottas disease begin in infancy or early childhood. While children are born with this disorder, symptoms are not usually seen at birth. Typically, the first indication of the disease is when children do not reach motor developmental milestones such as crawling or walking on time. Once a child starts to show symptoms, they become progressively weaker in the muscles of the body, arms and legs. Children with this disease will also start to lose feeling in their feet. This loss of feeling also continues to get worse once it begins. Individuals affected with this disease may also have; pain, numbness, tingling or burning sensations in their legs.

Possible Causes

The weakness and loss of feeling found with Dejerine-Sottas disease occurs when the protective myelin layer around nerves break down. For unknown reasons, connective tissue builds up in this protective layer and causes nerve and muscle damage.

Diagnosis

The diagnosis of De Jerine-Sottas disease is made clinically because the gene responsible is not known at this time. The diagnosis is first suspected in children with progressive weakness and loss of feeling. A detailed family history and performing nerve conduction velocity (NCV) and electromyogram (EMG) tests help confirm the diagnosis. NCV and EMG evaluate the function of nerves. Children with this disease have slow nerve conduction velocity, indicating that the protective layer is breaking down.

Treatment

Currently, there is no treatment for Dejerine-Sottas disease and it is not possible to reverse or slow the progression of weakness. However, supportive therapy is available. Physical therapy and strengthening exercises for the feet and legs can be helpful. Other treatments that can also aid walking include stretching and special shoes with good ankle support. As the disease progresses, crutches, canes and wheel chairs may become necessary. Medication to help relieve pain can also be helpful. Attention to the hygiene of the child’s feet and any injury to the feet is important since they lack full sensation.

Prognosis

The severity and the progression of Dijerine-Sottas disease varies from individual to individual. However, most children with the disease must use a wheelchair by their teens or 20’s. While this is a disease affecting the nervous system, the brain is not involved and intelligence is normal. Children do well in school and many individuals lead very active lives.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

MDA Diseases
Brief summary as well as a format to ask questions and links to other information.

Northwestern Memorial Hospital Health Library
Short discussion of the disease with listing of other names for the disease.

Google Search for De Jerine-Sottas Disease

References and Sources

Cotran R, Kumar V, and Collins T (1999). Robbins Pathologic Basis of Disease, 6th ed. WB Saunders p. 1278.