Dejerine-Sottas disease is an inherited disorder that affects the peripheral nerves. Dejerine-Sottas disease belongs to the group of inherited sensory and motor neuropathies. Doctors often refer to the disorder 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 in 1893 by neurospecialists Dejerine and Sottas in France and named in honor of these two physicians. Dejerine-Sottas disease occurs sporadically in most cases as an inherited disease. Either an autosomal recessive or an autosomal dominant mode of inheritance occurs. It is a congenital disorder of the nerves, whereby the peripheral nerves are damaged. As a result, the muscles progressively degrade. The disease results from several genetic mutations, so there is no cure yet.
Causes
Dejerine-Sottas disease results from certain genetic mutations. This usually involves the proteins axons or myelin, which have defects. According to current findings, the corresponding mutations occur particularly frequently on the EGR2 and PRX genes. Dejerine-Sottas disease is inherited in two ways. One is an autosomal dominant mode of inheritance, and the other is an autosomal recessive mode. Dejerine-Sottas disease usually occurs sporadically.
Symptoms, complaints, and signs
Dejerine-Sottas disease first manifests in patients during childhood. Usually, the first signs of the disease appear in young children who have not yet passed the age of three. Dejerine-Sottas disease is characterized by a relatively slow but steady progression. However, the disease sometimes develops more rapidly in the phase of puberty than before. This puts many patients at risk of serious disability. Basically, in most cases, Dejerine-Sottas disease progresses more rapidly than other Charcot-Marie-Tooth type diseases. In addition, the symptoms are usually more severe. For example, many individuals affected by Dejerine-Sottas disease are confined to a wheelchair because they are unable to walk independently. In other sufferers, Dejerine-Sottas disease is sometimes less severe. For example, these patients only need walking aids such as crutches or walkers to get around independently. Dejerine-Sottas disease is characterized by severe weakness of the muscles in the lower limbs. The severity of 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. Most often, the typical symptoms are seen in the forearms and hands as well as the lower legs and feet. In addition to muscle weakness, patients also suffer from sensory disturbances in the corresponding areas. The symptoms result from a continuous breakdown of muscle tissue as well as a reduced tone of the musculature. In addition, numerous individuals with Dejerine-Sottas disease suffer from pain sensations in the limbs, clawed hands, a curved spine, and deformities of the feet. In addition, some individuals show peripheral areflexia, ataxia, and are slow to improve their motor skills in early childhood. Less commonly, patients suffer from eye movement limitation, mild hearing loss, anisocoria, and nystagmus. As patients age, they progressively lose their ability to walk. Affected individuals suffer from convulsions and fasciculations. Partial funnel chest and scoliosis develop, as does Sudeck’s disorder.
Diagnosis
The diagnosis of Dejerine-Sottas disease should be made by a medical specialist. Because the disease usually manifests in children, guardians first consult the pediatrician. The latter refers the patient to an appropriate specialist, who, after taking a history, performs the clinical examinations.Typical signs of Dejerine-Sottas disease consist of reduced to absent reflexes, reduced speed of nerve conduction, and reduced sensitivity as revealed by electromyography. The cerebrospinal fluid often has increased levels of proteins. In addition, thickening of the nerves in the limbs is evident, some of which can be detected by palpation. Otherwise, the changes in the nerves can be seen on MRI examination. On histologic examination, the Schwann cells appear hypertrophic; in addition, the medullary fibers are reduced and exhibit so-called onion–skin formations. The physician performs a differential diagnosis that excludes other types of hereditary sensorimotor neuropathies.
Complications
Unfortunately, because Dejerine-Sottas disease progresses and develops relatively slowly, only a late diagnosis is possible. Complications are relatively variable; however, most cases result in severe disability of the patient. In Dejerine-Sottas disease, the affected person is often dependent on a wheelchair or other walking aids. Independent walking is not possible, which extremely limits everyday life and lowers the quality of life. Parents are also often affected by the psychological burden of the disease. In addition, the muscles are only weakly developed, so that independent physical efforts are usually not possible. It may also be the case that the affected person can no longer move his wheelchair himself if the arm muscles are no longer one hundred percent developed. The patients themselves also often suffer from depression and inferiority complexes. In addition to limited movement, there is also pain in the extremities. A cure for Dejerine-Sottas disease is not possible. For this reason, only the symptoms can be treated with physiotherapy or physical therapy, so that the movement restrictions are combated. However, it is not possible to cure Dejerine-Sottas disease completely.
When should you see a doctor?
Parents who notice the first signs of muscle weakness in the lower limbs in their child should talk to their pediatrician. Possible accompanying symptoms of Dejerine-Sottas disease – such as pain sensations 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 movement restrictions and other complaints develop. Once the diagnosis has been made, further measures must be initiated. In any case, the child must receive physiotherapeutic support. In addition, regular medical examinations and early psychological support are indicated to enable the child to lead a normal everyday life despite the illness. Parents who feel psychologically burdened by the child’s illness should talk to a therapist. If the child ever falls or complains of unusual symptoms, it is best to consult an emergency physician. This is especially true if a broken bone, circulatory problems, and other serious complications of Dejerine-Sottas disease are suspected.
Treatment and therapy
Currently, it is not possible to treat or cure Dejerine-Sottas disease causally. Therefore, therapy focuses only on alleviating the symptoms and on enabling patients to lead a largely self-determined daily life. Thus, affected individuals usually receive regular physiotherapeutic care with physiotherapy tailored to the individual case. The exercises strengthen the patients’ muscles and motor skills. In addition, most individuals with Dejerine-Sottas disease move around with walking aids. In numerous cases, a wheelchair is required; in addition, children with Dejerine-Sottas disease often attend a special school.
Outlook and prognosis
Because Dejerine-Sottas disease is a hereditary disorder, it cannot be treated by causal therapy. In any case, affected individuals are thereby dependent on symptomatic treatment to alleviate the symptoms. As a rule, patients are dependent on a wheelchair and suffer from significantly restricted development. Running and walking are only possible with walking aids, and the entire musculature of the body is extremely weakened.Furthermore, severe pain occurs in the limbs, which does not disappear on its own and therefore needs to be treated. The patient’s quality of life is very much limited and reduced without treatment of Dejerine-Sottas disease. With the treatment of this disease, there are no particular complications or other discomforts. With the help of physiotherapy and through various exercises, many of the symptoms can be limited so that the patient can participate in ordinary development. Nevertheless, many patients remain dependent on a wheelchair and cannot move independently. Therefore, a complete cure for Dejerine-Sottas disease does not occur. However, the patient’s life expectancy is usually not negatively affected by the disease.
Prevention
It is currently not possible to effectively prevent Dejerine-Sottas disease. The background of the development of the disease is mostly clarified, but so far eludes influence. This is because the causes of Dejerine-Sottas disease are found primarily in genetic mutations, and numerous research projects are currently underway to prevent them.
Follow-up
In most cases, the affected person has no or very few options for aftercare in Dejerine-Sottas disease. The primary need for this disease is early screening and subsequent treatment to prevent further complications. Since this is a genetic disease, genetic testing and counseling can also be performed if the patient wishes to have children to prevent recurrence of Dejerine-Sottas disease. In many cases, the symptoms of the disease can be limited by measures of physiotherapy. As a rule, some of the exercises can be repeated in the patient’s own home, which may speed up the healing process. Furthermore, psychological care may also be necessary. In Dejerine-Sottas disease, the affected children depend on the help and care of their parents to properly alleviate the symptoms. Loving and intensive conversations can also be very important to avoid psychological upsets or depression. Intensive support at school is also very important in Dejerine-Sottas disease. In this context, it cannot be universally predicted whether the disease will result in a reduced life expectancy for the patient.
Here’s what you can do yourself
Dejerine-Sottas disease is a hereditary neuropathy that primarily affects the peripheral nerves. There is no cure for the disease. The patient cannot take self-help measures to combat the disorder causally. For those affected, the greatest discomfort usually results from the muscle weakness characteristic of the disease, which can severely impair motor and sensory function. Due to the damage to the peripheral nerves, the muscle tissue and muscle tone constantly degrade. This process usually cannot be stopped completely. However, targeted physiotherapy and patient-specific physiotherapy can significantly slow down muscle atrophy. In this way, the patient’s motor function is improved and maintained for as long as possible. Patients who are still unable to move around 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 function, crutches or a rollator may already be sufficient to maintain the mobility of the affected person. However, many patients are dependent on a wheelchair. Dejerine-Sottas disease is already evident in young children. To ensure that they nevertheless develop in the best possible way, parents should pay attention to both educational and psychological early support and also ensure professional physiotherapeutic support for their child.