About dejerine sottas disease

What is dejerine sottas disease?

Dejerine-Sottas disease is an inherited neurological disorder that progressively affects mobility. Peripheral nerves become enlarged or thickened leading to muscle weakness. Progress of the disorder is irregular and often accompanied by pain, weakness, numbness, and a tingling, prickling or burning sensation in the legs. Many people with Dejerine-Sottas disease continue to lead active lives.

Most neurologists now consider this disorder to be one of 5 types of hereditary motor sensory neuropathy (HMSN) which simply means genetically transmitted disorder of the nerves associated with movement. Dejerine-Sottas disease is one of several that comprise Type III and in which the protective sheath around the long nerves breaks down (demyelination) for unknown reasons exposing and endangering the nerve. The nerves are enlarged due to an accumulation of connective tissue that may present in the form of "onion-bulbs".

What are the symptoms for dejerine sottas disease?

Tingling symptom was found in the dejerine sottas disease condition

DSS often begins suddenly by age two. Tingling, Prickling or Burning sensations are usually the first symptoms. Muscle Weakness is usually first noticed in the back of the leg. This then spreads to the front leg muscles. Children may have delayed motor milestones, including walking at preschool age or later. Some individuals may need to use a wheelchair by their teenage years. The hand and forearm muscles may become weak as the condition worsens. Individuals with DSS may have respiratory insufficiency, meaning they do not take in enough oxygen or breathe out enough carbon dioxide. Mild Vision difficulties may also occur. Other symptoms include pain, loss of heat sensitivity, absence of reflexes, muscle loss (atrophy) of leg muscles, Scoliosis (curving of the spine), and Ataxia (loss of coordination and balance). Symptoms can vary among individuals diagnosed with DSS.

What are the causes for dejerine sottas disease?

DSS is caused by changes (mutations) in several different genes. Genes associated with DSS include MPZ, EGR2, PMP22, and PRX. Mutations in these genes can result in the continued loss of myelin (the protective sheath surrounding nerves) leading to muscle weakness and mobility problems. Not all genes associated with DSS have been identified. For about 45% of individuals diagnosed with DSS, the genetic cause of the condition has been determined. This may indicate that other genes not yet identified could also be associated with DSS.

DSS can be inherited in a dominant or recessive manner. Individuals with a dominant form of the condition may have earlier symptom onset compared to individuals with the recessive form.

Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.

What are the treatments for dejerine sottas disease?

Individuals may see a team of neurologists, physiatrists, orthopedic surgeons (specialists trained in surgery of the musculoskeletal system), and physical and occupational therapists. Ankle or foot surgery or special shoes with good ankle support can help correct or stabilize joints involved with walking. Muscle pain can be treated with acetaminophen or nonsteroidal anti-inflammatory medications. Nerve pain can be treated with tricyclic antidepressants or other medications such as carbamazepine or gabapentin. It is important to work with a doctor to identify the type of pain, so the best medication can be prescribed. Certain medications should not be taken if an individual is diagnosed with DSS.

Some organizations offer assistance to individuals with vision or mobility difficulties and their families. Genetic counseling may be helpful for families and individuals diagnosed with DSS.

What are the risk factors for dejerine sottas disease?

Dejerine-Sottas syndrome often begins by age two. This disorder is thought to affect males and females equally. It can affect people from all races and ethnicities.

Is there a cure/medications for dejerine sottas disease?

There is no cure for DSS. Treatment is supportive and aimed at reducing symptoms. 

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