Partington Syndrome

Partington syndrome is a congenital disease that manifests itself in specific key symptoms. Partington syndrome is associated with mental retardation, dystonic movements of the hands and dysarthria. Intellectual abilities are only mildly to moderately impaired in Partington syndrome. Partington syndrome is an X-linked inherited disorder.

Partington Syndrome

What is Partington Syndrome?

Partington syndrome is extremely rare. Doctors estimate the prevalence of Partington’s syndrome to be less than 1:1,000,000, because only about 20 people with Partington’s syndrome are known to date. Typical of Partington syndrome is a combination of the symptoms dystonia, dysarthria and intellectual disability.┬áSee foodanddrinkjournal for Autoimmune Hepatitis Dictionary Definitions.

Partington syndrome has an X-linked recessive inheritance pattern. The causes of Partington syndrome can be found in genetic mutations on the ARX gene. Specifically, the Xp22.13 gene locus is affected by the gene mutations. Patients with Partington syndrome show the typical symptoms and signs from birth. In some cases, however, the symptoms only appear in infancy, such as the intellectual deficits.

Dystonic hand movements and pronounced dysarthria are also characteristic of Partington syndrome. Partington syndrome was first described by the physician Partington in 1988. Partington syndrome is basically one of the neurological disorders that are congenital.

Partington syndrome manifests itself mainly in male patients. Affected females tend to suffer from a milder form of Partington syndrome. The severity of the intellectual disability varies from case to case. Some of the children affected by Partington syndrome are autistic to a certain extent, so that communication skills and social interactions are impaired.

In addition, some of the patients show epileptic seizures. In the context of dystonia, those affected suffer from involuntary contractions of the muscles. In Partington syndrome, this disorder manifests itself primarily in the hands. This can sometimes lead to tremors and other uncontrolled movements.

Dystonia in Partington syndrome begins in childhood and steadily increases in severity. Sometimes the dystonia also affects other areas of the body, such as the face. This may result in dysarthria, i.e. a disorder of pronunciation.

Causes

The pathogenesis of Partington syndrome is based on genetic mutations at specific gene loci. In principle, carriers of the mutated genes pass on the Partington syndrome to their children via an x-linked recessive path. For this reason, boys in particular suffer from the pronounced symptoms of Partington syndrome.

On the other hand, Partington syndrome in girls usually only manifests itself in mild symptoms or does not appear further. The gene mutations responsible for Partington Syndrome are on the ARX gene. Either the Xp21.3 or Xp22.13 loci are affected by the genetic mutations. The gene is responsible for producing a protein that stimulates the activity of other genes.

Symptoms, Ailments & Signs

Partington syndrome manifests itself in a characteristic triad of symptoms. These include dysarthria, dystonia and mild to severe mental retardation. Partington syndrome is congenital, meaning that the signs of the disease are generally already apparent in newborns.

However, the mental handicap in particular often only becomes apparent within the first few years of life, when the developmental processes of the sick child do not progress as they do in healthy babies. Dystonia manifests itself in involuntary movements and contractions of the muscles. In Partington syndrome, the hands are particularly affected.

However, the muscles of the face may also move in a disturbed manner, so that the patient’s pronunciation is impaired. In addition, some people with Partington Syndrome have an unusual, awkward-looking gait.

Diagnosis & course of disease

A diagnosis of Partington syndrome is made by a suitable specialist, usually in a medical institute specializing in rare hereditary diseases . Partington syndrome often first appears in infants or young children, so parents play an important role in the patient’s medical history and are usually present at all examinations.

The clinical examination focuses on the physical symptoms, so the doctor examines, for example, dystonia of the hands. Using special intelligence tests, the specialist also determines the degree of the patient’s mental disability. A reliable diagnosis of Partington’s syndrome is possible by means of genetic analysis of the DNA of the sick person. The doctor identifies the mutations that are typical of Partington syndrome. Partington Syndrome is not to be confused with Partington-Anderson Syndrome, also known as Cohen Syndrome.

Complications

As a rule, those affected by Partington syndrome suffer from significant mental retardation. Those affected are mostly dependent on the help of other people in their lives and can no longer do simple everyday things on their own. Furthermore, the development of the child is significantly delayed due to the mental disability, so that this can also lead to difficulties and complaints in the adulthood of the patient.

Speech disorders can also become noticeable due to Partington syndrome. Patients also suffer from restricted mobility and a disturbed gait. Due to the restrictions, teasing or bullying can occur, especially among children or young people. In many cases, the patient’s parents or relatives also suffer from the symptoms of Partington syndrome due to psychological problems or depression.

The quality of life of those affected and their relatives is usually extremely reduced by this disease. Unfortunately, a causal treatment of Partington’s syndrome is not possible. Those affected are therefore dependent on various therapies that make everyday life easier. Partington syndrome may also reduce the life expectancy of those affected.

When should you go to the doctor?

Parents who notice their child’s hand movements or other signs of a serious medical condition should consult their doctor. Partington syndrome is a congenital disorder that is best diagnosed immediately after the child is born. The condition should be diagnosed in early childhood at the latest so that the necessary treatment measures can be initiated at an early stage. Anyone who notices unusual signs of illness that limit the well-being of the child and persist over a longer period of time should speak to their family doctor or pediatrician. In the event of serious complications, the help of the medical emergency service is indicated.

If an accident occurs as a result of a movement disorder, the child must be taken to the hospital immediately. Partington Syndrome is diagnosed and treated by a specialist in hereditary disorders. Other contacts are the orthopedist or the pediatrician. The actual therapy takes place in a special center where the child receives physiotherapeutic treatment. In addition, surgical measures must be taken to correct any malformations. Mental disorders also require cognitive therapy. Parents should work out a suitable therapy with the pediatrician, which is adapted to the child’s individual state of health.

Treatment & Therapy

The treatment of Partington syndrome is basically only symptomatic. Because the causes of Partington syndrome cannot be eliminated according to the current state of medical science. The therapy of Partington syndrome is based on the three main complaints and their individual characteristics in the respective patient.

To alleviate the dystonia, the sick child receives special physiotherapy to train the fine motor skills of the hands. If patients with Partington syndrome suffer from severe dysarthria, speech therapy can be considered. This improves the clarity of pronunciation and thus the articulation ability of the child concerned. With regard to mental retardation, the patients usually receive lessons in a special school and also special care offers outside of school.

Outlook & Forecast

The prognosis of Partington syndrome is unfavorable. The disease is based on a genetic defect. According to legal requirements, mutations in human genetics may not be changed by medical professionals. Therefore, the syndrome cannot be cured.

An improvement in further development over the course of life is achieved when early support takes place. This presupposes that the genetic defect is diagnosed immediately after birth. A treatment plan is drawn up based on the individual severity of the disease. Several treatment methods are used to achieve the best possible results and improvements. A significant optimization of the patient’s communication options can often be achieved. This simplifies everyday processes, dealing with the patient and promotes better interpersonal cooperation. A social life with an exchange with other people is made possible.

Despite all efforts and various therapeutic approaches, mental retardation and a severe impairment of quality of life remain in the patient. The patient needs lifelong medical care. In addition, daily care is essential, since it is not possible to organize everyday life completely independently. The help and support of family members and carers is necessary for the patient. In addition, the average expected lifetime is reduced for many.

Prevention

Partington syndrome is congenital, so there is no way to prevent it. However, the symptoms of the patients can be partially alleviated by means of adequate treatment measures.

Aftercare

Since Partington syndrome is a congenital disease, the affected person usually has very few or even no special measures and options for aftercare. First and foremost, this disease requires a quick and, above all, very early diagnosis so that the symptoms do not worsen further.

If the parents or the person affected by Partington syndrome wish to have children, a genetic examination and counseling can also be carried out so that the syndrome does not appear again in the descendants. The affected children depend on intensive help and care from their own families in their lives and also in their everyday lives.

Intensive and, above all, loving conversations are also very important and necessary here, so that depression or other psychological problems do not occur. Furthermore, intensive support for the child in school is necessary so that the child can experience normal development. As a rule, Partington syndrome does not reduce the life expectancy of the person affected. Further follow-up measures are usually not available to the patient, since the disease cannot be completely cured.

You can do that yourself

Patients suffering from Partington syndrome can support medical treatment by engaging in moderate exercise. It is important for those affected to have ongoing communication with relatives and friends. This can counteract the social isolation that often accompanies Partington syndrome and similar serious illnesses. Therefore, the relatives should spend a lot of time with the sick person and try to ensure that the person concerned can attend a self-help group. If the patient is mentally able to do this, personal contact with other patients can also be useful.

If the measures mentioned do not bring any improvement, a different therapy concept must be worked out together with the doctor. Since Partington’s syndrome is a very rare disease, experience with regard to the healing success of the therapy methods is limited. It is all the more important to deal openly with the disease. It may be worth experimenting with alternative treatments.

After an operation on the hand, the limb should initially be rested. You can then start with light stretching and strengthening exercises. In the case of mental retardation, long-term accommodation in a home is necessary.