When Dejerine-Sottas disease is an inherited disease that affects the peripheral nerves. Dejerine-Sottas disease belongs to the group of inherited sensory and motor neuropathies. Doctors often refer to the disease as HMSN type 3.
What is Dejerine Sottas Disease?
Dejerine-Sottas disease is also known by the synonyms hypertrophic neuropathy of childhood and Charcot-Marie-Tooth disease type 3. Dejerine-Sottas disease was first described by neuroscientists Dejerine and Sottas in France in 1893 and named in honor of these two medical professionals.
Dejerine-Sottas disease occurs sporadically in most cases as an inherited disease. Either an autosomal recessive or an autosomal dominant inheritance pattern occurs. It is a congenital disorder of the nerves in which the peripheral nerves are damaged. As a result, the muscles gradually break down. The disease results from various genetic mutations, so that no cure has yet been possible.
Causes
Dejerine-Sottas disease results from certain gene mutations. Usually the proteins axons or myelin, which have defects, are affected. According to previous knowledge, the corresponding mutations occur particularly frequently on the EGR2 and PRX genes.
Dejerine-Sottas disease is inherited in two ways. On the one hand, an autosomal dominant inheritance path is possible, on the other hand an autosomal recessive one. Dejerine-Sottas disease is usually sporadic.
Symptoms, ailments & signs
Dejerine-Sottas disease manifests itself for the first time in patients in childhood. The first signs of the disease usually show up in small children who have not yet passed the age of three. Dejerine-Sottas disease is characterized by relatively slow but steady progression.
However, the disease can develop faster during puberty than before. This puts many patients at risk of serious disabilities. Basically, Dejerine-Sottas disease progresses faster in most cases than other diseases of the Charcot-Marie-Tooth type. In addition, the symptoms are usually more severe.
Many people affected by Dejerine-Sottas disease are dependent on a wheelchair because they are unable to walk on their own. In other sick people, Dejerine-Sottas disease is sometimes less pronounced. These patients only need walking aids such as crutches or walkers in order to move independently.
Dejerine-Sottas disease is characterized by a pronounced weakness of the muscles in the lower limbs. The severity of the muscle weakness varies from person to person and determines the need for walking aids or wheelchairs. In addition to the legs, the arms are usually also affected by the weak muscles.
The typical symptoms are most common in the forearms and hands, as well as the lower legs and feet. In addition to muscle weakness, patients also suffer from sensory disorders in the relevant areas. The symptoms result from a continuous breakdown of muscle tissue and a reduced tone of the muscles.
In addition, many people with Dejerine-Sottas disease experience pain in the limbs, clenched hands, a curved spine, and deformities of the feet. In addition, some people have peripheral areflexia, ataxia, and are slow to improve their motor skills in early childhood.
Less often, patients suffer from impaired eye movements, a slight decrease in hearing, anisocoria and nystagmus. As patients get older, they lose their ability to walk. Those affected suffer from cramps and fasciculations. Sometimes a funnel breast and scoliosis as well as Sudeck’s disorder develop.
Diagnosis
A diagnosis of Dejerine-Sottas disease should be made by a medical specialist. Since the disease usually manifests itself in children, custodians first go to the pediatrician. He will refer the patient to a suitable specialist who will carry out the clinical examinations based on an anamnesis.
Typical signs of Dejerine-Sottas disease are reduced or absent reflexes, reduced speed of nerve conduction, and reduced sensitivity, which shows up on electromyography. The cerebrospinal fluid often has high levels of protein.
In addition, a thickening of the nerves in the limbs can be seen, some of which can be determined by palpation. Otherwise, the changes in the nerves can be seen in the MRI scan. In histological examinations, the Schwann cells appear hypertrophic, and the medullary fibers are reduced and show so-called onion skin formations. The doctor performs a differential diagnosis that rules out other types of hereditary sensorimotor neuropathies.
Complications
Unfortunately, because Dejerine-Sottas disease progresses and develops relatively slowly, diagnosis can only be made late. The complications are relatively different, but in most cases the patient is severely disabled. With Dejerine-Sottas disease, the person concerned is often dependent on a wheelchair or other walking aids.
Independent running is not possible, which extremely restricts everyday life and lowers the quality of life. Parents are also often affected by the psychological stress of the disease. In addition, the muscles are only weakly developed, so that independent physical exertion is usually not possible.
It can also happen that the person concerned can no longer move his wheelchair himself if the arm muscles are no longer fully developed. The patients themselves often suffer from depression and inferiority complexes. In addition to the restricted mobility, there is also pain in the extremities.
There is no cure for Dejerine-Sottas disease. For this reason, only the symptoms can be treated with physiotherapy or physiotherapy, so that the movement restrictions can be combated. However, it is not possible to completely cure Dejerine-Sottas disease.
When should you go to the doctor?
Parents who notice the first signs of muscle weakness in their child’s lower limbs should speak to their pediatrician. Possible accompanying symptoms of Dejerine-Sottas disease – such as sensations of pain in the legs and deformities in the feet – should also be clarified quickly. In any case, Dejerine-Sottas disease must be diagnosed and treated – if possible, before serious mobility restrictions and other symptoms set in.
Once the diagnosis has been made, further measures must be initiated. In any case, the child must be accompanied by a physiotherapist. In addition, regular medical examinations and early psychological support are indicated in order to enable the child to have a normal everyday life despite the illness.
Parents who feel psychologically stressed by the child’s illness should speak to a therapist. If the child falls or complains of unusual symptoms, it is best to consult an emergency doctor. This is especially true if a broken bone, circulatory disorders, and other serious complications of Dejerine-Sottas disease are suspected.
Treatment & Therapy
It is currently not possible to treat or cure the cause of Dejerine Sottas disease. Therapy therefore only focuses on alleviating the symptoms and on enabling the patient to have a largely self-determined everyday life. The persons affected usually receive regular physiotherapy care with tuned to the particular case physiotherapy.
The exercises strengthen the patient’s muscles and motor skills. In addition, most people with Dejerine-Sottas disease use walking aids to get around. In many cases a wheelchair is required, and children with Dejerine-Sottas disease often attend special schools.
Outlook & forecast
Since Dejerine-Sottas disease is an inherited condition, it cannot be treated with causal therapy. In any case, those affected are dependent on symptomatic treatment in order to alleviate the symptoms.
As a rule, the patients are dependent on a wheelchair and suffer from significantly reduced development. Running and walking is only possible with walking aids, whereby the entire musculature on the body is extremely weakened. Furthermore, severe pain occurs in the limbs, which does not go away on its own and therefore has to be treated. Without treatment for Dejerine-Sottas disease, the patient’s quality of life is severely impaired and reduced.
There are no particular complications or other complaints when treating this condition. With the help of physiotherapy and various exercises, many of the symptoms can be limited so that the patient can participate in normal development. Many patients nevertheless remain dependent on a wheelchair and cannot move independently.
A complete cure of Dejerine-Sottas disease does not therefore occur. As a rule, however, the life expectancy of the patient is not negatively affected by the disease.
Prevention
It is not currently possible to effectively prevent Dejerine Sottas disease. The origins of the disease have largely been clarified, but so far they have not been influenced. Because the causes of Dejerine-Sottas disease can be found primarily in genetic mutations, the prevention of which numerous research projects are currently underway.
Aftercare
In most cases, the person affected with Dejerine-Sottas disease has no or very few options for follow-up care. The main thing to do with this disease is early examination and subsequent treatment so that there are no further complications. Since this is a genetic disease, a genetic examination and counseling can also be carried out if you want to have children so that Dejerine-Sottas disease does not recur.
In many cases, the symptoms of the disease can be limited by means of physiotherapy. As a rule, some of the exercises can be repeated at home, which may speed up healing. Psychological support may also be necessary. Affected children with Dejerine Sottas disease need the help and care of their parents to properly relieve the symptoms.
Loving and intensive conversations can also be very important in order to avoid psychological upsets or depression. Intensive support at school is also very important for Dejerine Sottas disease. It cannot be universally predicted whether the disease will lead to a reduced life expectancy for the patient.
You can do that yourself
Dejerine-Sottas disease is an inherited neuropathy that predominantly affects the peripheral nerves. There is no cure for the disease. The patient cannot take self-help measures that combat the cause of the disorder.
For those affected, the greatest complaints usually result from the muscle weakness characteristic of the disease, which can severely impair motor and sensory functions. Because of the damage to the peripheral nerves, muscle tissue and muscle tone constantly degrade. In most cases, this process cannot be stopped completely. Targeted physiotherapy and patient-specific physiotherapy can, however, significantly slow down muscle wasting. This improves the patient’s motor skills and maintains them for as long as possible.
Those affected who still cannot move without a walking aid should get used to using these aids in good time. Depending on the severity of the muscle weakness and the resulting impairment of motor skills, crutches or a walker may be sufficient to maintain the mobility of the person concerned. However, many patients are dependent on a wheelchair.
Dejerine-Sottas disease shows up even in young children. In order for these to develop in the best possible way, parents should pay attention to both educational and psychological early support and also ensure that their child is given professional physiotherapeutic support.
