Dejerine Sottas Syndrome: Causes, Symptoms, Treatment, Prognosis

What is Dejerine Sottas Syndrome ?

Dejerine sottas syndrome is also called dejerine sottas disease or onion bulb neuropathy or Dejerine–Sottas neuropathy or progressive hypertrophic interstitial polyneuropathy of childhood. It is a neurologic disorder. Dejerine sottas syndrome strikes the human being in his or her infancy. The nerves get gradually damaged and become paralyzed to an extreme level. The doctors have not been able to ensure that this disease is curable.

Dejerine Sottas Syndrome

Causes of Dejerine Sottas Syndrome

Dejerine sottas syndrome is generally hereditary and despite being peculiar in character, dejerine sottas syndrome gradually becomes dominant as well as deadly. Myelin is a cover which protects the nerves. Dejerine sottas syndrome is the result of continuous loss of myelin. Looking towards the depth of the causes, it can be noticed that human bodies have special fibres. They convey the electrical signals from brain to the spinal cord. These fibres also spread the same electrical signals throughout the body, derails the rhythm of these fibres. The shortcomings are the results of the disease which attack the genes for proteins found in axons fibre. There is a coating on axons that nurtures them is badly affected. Dejerine sottas syndrome generally strikes the human beings in their early childhood. Even till today scientists have not been able to break through the reasons behind why this myelin gets vanished one time after being run down gradually. That is why dejerine sottas syndrome is called classic genetic disease as it comes out of the interaction of two genes. One received from father while the other received the germ of this deadly disease from mother. In both the case, the germ, getting to human body, gradually becomes dominant.

Symptoms of Dejerine Sottas Syndrome

The symptoms of dejerine sottas syndrome is watched during infancy. Generally it is observed when the child is below three years. One of the key symptoms of dejerine sottas syndrome is slow development at the same time when the same child becomes teenage the advancement can be seen but with harsh deficiency. In dejerine sottas syndrome the reflections become different also. Some patients stop walking. They try to walk with the help of wheelchairs. Some patients however need only stick to move around.

Dejerine sottas syndrome is typified by the extreme level of weakness in body’s lower and upper portion. It also forces human being to lose sensation in the lower legs. Along with these forearms, feet and hands also start getting damaged. Simultaneously, muscle tone becomes reduced when the disease strikes in sharper way. There are also a few other symptoms of dejerine sottas syndrome like pain in high intensity, twist of the spine. Hands get scrabbled and the foot also looks abnormal, gradually become defected. The patients also lose ability to hear properly.

Tests to Diagnose Dejerine Sottas Syndrome

The nerve extremities and in some cases even the cranial nerves emerge as enlarged on the MRI or CT Scan when checked for dejerine sottas syndrome. This is because hypertrophy of human connective interstitial tissue presents the nerves a unique onion bulb like appearance.

Medical imaging also can detect the nerves getting enlarged to an extreme degree.

Treatment for Dejerine Sottas Syndrome

It is difficult to ensure that that there is specific treatment of dejerine sottas syndrome which can help the patients get cured completely. Still there are a few suggestive and supportive treatments for dejerine sottas syndrome. The patients can take help of orthopedic surgery. The patients can undergo foot bracing. This is generally done for the stabilization of joints which are used for the walking by the patients. At the same time, there is genetic counseling. It can trace out the disease and become befitted to the people plagued by dejerine sottas syndrome.

Prevention of Dejerine Sottas Syndrome

There is no way to prevent dejerine sottas syndrome as the disease is genetic in nature.

Complications of Dejerine Sottas Syndrome

The first and foremost danger of dejerine sottas syndrome is that it gradually starts ruining the mobility of human beings. Peripheral nerve damage gradually gets increased and the result is that the muscles become weaker in due course. But as dejerine sottas syndrome is not consistent it becomes difficult for the affected person to understand the danger of dejerine sottas syndrome. But with the disease penetrating into the nerves, the patient feels acute pain and weakness. Even, the patients feel burning sensation in their legs. The patients, plagued by the disease also get badly stricken in their hands also along with the legs. Ultimately, with the spinal cord getting curved gradually, the patient’s body can be paralyzed also. As the disease normally starts at the age in between 10 and 30 years, it can affect both the male and female.

Prognosis/Outcome for Dejerine Sottas Syndrome

Thee is no proper treatment for dejerine sottas syndrome so the prognosis is not so good. Researchers are working on stem cell research along with neurotropic factors and gene therapy for managing dejerine sottas syndrome. Scientists are also working on combining all these above mentioned three therapies.

Coping with Dejerine Sottas Syndrome

Coping with dejerine sottas syndrome is not easy, it is best to find the problem as early as possible so that the child can be trained for normal social life. Social skills training has to be given from the early age so that the child does not lag behind in studies and other aspects of his or her life. Joining support groups is one of the best ways to cope with dejerine sottas syndrome. Listening to the doctors and therapists is very crucial in coping with dejerine sottas syndrome.

Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:April 6, 2018

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