Partington syndrome is a congenital disorder that manifests in specific leading symptoms. For example, 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 represents an x-linked inherited disorder.
What is Partington syndrome?
Partington syndrome is enormously rare. Medical experts estimate the prevalence of Partington syndrome to be less than 1 in 1,000,000, as only about 20 people are known to have Partington syndrome to date. Typical of Partington syndrome is a combination of the symptoms of dystonia, dysarthria and mental retardation. Partington syndrome has an x-linked recessive pattern of inheritance. In this, the causes of Partington syndrome are found in genetic mutations on the ARX gene. Specifically, gene locus Xp22.13 is affected by the gene mutations. Patients with Partington syndrome show the typical symptoms and signs from birth. In some cases, however, the symptoms do not appear until infancy, such as the intellectual deficits. Characteristic of Partington’s syndrome are also dystonic hand movements and pronounced dysarthria. The first description of Partington’s syndrome was made by the physician Partington in 1988. Basically, Partington’s syndrome belongs to the neurological disorders that are congenital. Partington’s syndrome mainly manifests itself in male patients. Affected females tend to suffer from a milder form of Partington syndrome. The degree of mental retardation varies in individual cases. In some cases, children affected by Partington syndrome are autistic to a certain degree, 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. Sometimes tremors and other uncontrolled movements also occur. The dystonia in Partington’s syndrome begins in childhood and increases continuously in severity. Sometimes the dystonia also affects other areas of the body, such as the face. This may result in dysarthria, a disorder of pronunciation.
Causes
The pathogenesis of Partington syndrome is due to genetic mutations at specific gene loci. Basically, carriers of the mutated genes pass Partington syndrome to their children in an x-linked recessive manner. For this reason, boys in particular suffer from pronounced symptoms of Partington syndrome. In contrast, Partington syndrome in girls usually manifests itself only in mild symptoms or does not appear further. The gene mutations responsible for Partington syndrome are located on the ARX gene. Either loci Xp21.3 or Xp22.13 are affected by the genetic mutations. The gene is responsible for the production of a protein that stimulates the activity of other genes.
Symptoms, complaints, and signs
Partington syndrome manifests as a characteristic triad of symptoms. These include dysarthria, dystonia, and mild to more severe mental retardation. Partington syndrome is congenital, so that the signs of the disease are in principle already apparent in newborns. However, the mental retardation in particular often only becomes apparent within the first few years of life, when the developmental processes of the affected 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 patients’ pronunciation is impaired. In addition, some people affected by Partington syndrome have an unusual, awkward-looking gait.
Diagnosis and course of the disease
A diagnosis of Partington syndrome is made by an appropriate medical specialist, usually at a medical institute specializing in rare inherited diseases. Partington syndrome often first appears in infants or young children, so parents play an important role in the patient’s history and are usually present during all examinations.The clinical examination focuses on the physical symptoms, so that the doctor examines, for example, the dystonia of the hands. By means of 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 affected person. In this process, the physician identifies the mutations that are typical for Partington syndrome. Partington syndrome should not be confused with Partington-Anderson syndrome, which is also known as Cohen syndrome.
Complications
As a rule, Partington syndrome causes affected individuals to suffer from significant mental retardation. The affected persons are thereby mostly dependent on the help of other people in their lives and can no longer carry out simple everyday things on their own. Furthermore, the child’s development is also significantly delayed due to the mental retardation, so that this can also lead to difficulties and complaints in the patient’s adulthood. Speech disorders may also become apparent due to Partington syndrome. Patients also suffer from movement restrictions and impaired gait. Due to the limitations, teasing or even bullying may occur, especially in children or in adolescents. In many cases, the patient’s parents or relatives also suffer from the symptoms of Partington syndrome due to psychological complaints or depression. The quality of life of the affected person and the relatives is usually extremely reduced by this disease. Unfortunately, a causal treatment of Partington syndrome is not possible. The affected persons are therefore dependent on various therapies that make everyday life easier. It is also possible that Partington syndrome reduces the life expectancy of the affected person.
When should you see a doctor?
Parents who notice unusual hand movements or other signs of a serious condition in their child should consult the doctor. Partington syndrome is a congenital disorder that, at best, is detected immediately after the child’s birth. At the latest, the condition should be diagnosed in early childhood so that the necessary treatment measures can be initiated at an early stage. Anyone who notices unusual signs of illness that limit the child’s well-being and persist over a long period of time should talk to their family doctor or pediatrician. In the event of serious complications, assistance from emergency medical services 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 specialized center, where the child receives physiotherapeutic treatment. In addition, surgical measures must be taken to correct any malformations. In the case of mental disorders, cognitive therapy is also necessary. Parents should work out an appropriate therapy with the pediatrician, adapted to the child’s individual health condition.
Treatment and therapy
Treatment of Partington syndrome is basically symptomatic only. This is because the causes of Partington syndrome cannot be eliminated according to the current state of medical science. In this regard, the therapy of Partington syndrome is based on the three leading complaints as well as their individual manifestations in each patient. To alleviate the dystonia, the affected child receives special physiotherapy to train the fine motor skills of the hands. If patients with Partington syndrome suffer from severe dysarthria, logopedic treatment may be considered. In this way, the clarity of pronunciation and thus the articulation ability of the affected child improve. With regard to mental retardation, patients usually receive instruction in a special school and also special care services outside of school.
Outlook and prognosis
The prognosis of Partington syndrome is unfavorable. The disease is based on a genetic defect. Mutations in human genetics may not be altered by medical professionals, according to legal requirements. Therefore, a cure for the syndrome is not possible.An improvement in further development in the course of life is achieved if early intervention takes place. This requires that the genetic defect is diagnosed immediately after birth. A treatment plan is drawn up based on the individual expression of the condition. Several treatment methods are used to achieve the best possible results and improvements. Often, a significant optimization of the patient’s ability to communicate can be achieved. This simplifies the daily routines, the interaction with the patient and promotes a better interpersonal interaction. A social life with an exchange to other people is made possible. Despite all efforts and various therapeutic approaches, the patient remains mentally retarded and his quality of life is severely impaired. The affected person requires lifelong medical support. In addition, daily care is indispensable, since it is not possible for the patient to organize his daily life completely independently. The help and support of family members and caregivers is necessary for the patient. In addition, for many, the average expected life span is lowered.
Prevention
Partington syndrome is congenital, so there is no possibility of prevention. However, by means of adequate treatment measures, patients’ symptoms can be alleviated to some extent.
Aftercare
Since Partington syndrome is a congenital disease, there are usually very few or even no special measures and options for aftercare available to the affected person in this case. First and foremost, this disease requires a quick and, above all, a very early diagnosis, so that there is no further worsening of the symptoms. If the parents or the person affected by Partington syndrome wish to have children, genetic testing and counseling can also be performed to prevent the syndrome from recurring in the descendants. The affected children are dependent on intensive help and care from their own family in their lives and also in their everyday life. In this context, intensive and especially loving conversations are very important and necessary, so that depression or other psychological complaints do not occur. Furthermore, an intensive support of the child in school is also necessary, so that the child can experience a normal development. As a rule, Partington syndrome does not reduce the life expectancy of the affected person. Further measures of an aftercare are usually not available to the patient, because the disease can also not be completely cured.
What you can do yourself
Patients who have Partington syndrome can support medical treatment by engaging in moderate exercise. It is important for those affected to maintain ongoing communication with family members and friends. This can counteract the social isolation that often accompanies Partington syndrome and similar serious illnesses. For this reason, relatives should spend a lot of time with the sufferer and make every effort to ensure that the sufferer is able to attend a support group. If the patient is mentally able to do so, personal contact with other sufferers can also be useful. If the above-mentioned measures do not bring any improvement, another therapy concept must be worked out together with the doctor. Since Partington syndrome is a very rare disease, the empirical values regarding the healing success of the therapy methods are limited. This makes it all the more important to deal openly with the disease. It may be useful to experiment with alternative treatment methods. After an operation on the hand, the limb should first be spared. Afterwards, light stretching and strengthening exercises can be started. In the case of mental retardation, long-term placement in a home is necessary.