According to psyknowhow.com, Juberg-Marsidi Syndrome is an inherited disorder associated with mental retardation and physical disorders. The syndrome is relatively rare, with one disease per million births. The cause is a mutation in the ATRX gene.
What is Juberg-Marsidi Syndrome?
Juberg-Marsidi syndrome has an unfavorable prognosis. This syndrome represents a mutation in the patient’s genetics.
Juberg-Marsidi syndrome, also known as Smith-Fineman-Myers syndrome or X-linked mental retardation-hypotonic facies syndrome I, is an inherited disorder. It belongs to the group of “syndromes associated with intellectual deficit and hypotonic face”. The disease was first described in 1980 by the American pediatricians Richard C. Jubert and I. Marsidi. Since then, several cases of the disease in unrelated families have been described. Overall, the disease is very rare with one case per million births.
Causes
Juberg-Marsidi syndrome is inherited. It is an X-linked recessive inheritance. In X-linked recessive inheritance, the characteristic gene is located on the X chromosome. This means that the disease is inherited in a gender-linked manner. As a rule, women are only carriers of the disease.
For a woman to get sick, both the father and the mother would have to carry a diseased X chromosome. If only one X chromosome is affected, a recessive inherited disease does not become established. Women are therefore normally exclusively conductors. This means that they carry the diseased gene but do not show any corresponding disease characteristics themselves. Since men, unlike women, only have one X chromosome, they are affected by the disease if the damaged X chromosome was transferred from their mother.
Roughly speaking, if the father is ill, all the sons are healthy and all the daughters are carriers. If the mother carries the damaged X chromosome, 50 percent of the sons will be affected. 50 percent of the daughters would in turn be conductors. The cause of the syndrome is a mutation in the so-called ATRX gene in the chromosome region Xq25 at an interval of approximately 19.8 Mb.
Symptoms, Ailments & Signs
The main symptom of Juberg-Marsidi syndrome is severe intellectual disability. This is expressed by below-average cognitive abilities and thus also a significant limitation in feeling and mind. The intelligence of the affected children is significantly reduced. The growth and developmental disorders already begin in the womb, so that the children are already born hard of hearing or deaf.
The malformed faces of the sick children are striking. The facial features are rather coarse with a rather narrow face, the lips are very prominent. The lower lip appears drooping. The upper central incisors appear just as prominent. In general, the teeth are quite far apart. The eyebrows are bushy, the lid axes are slanted, but the lid gaps are rather narrow. There is a fold of skin in front of the eyelids at the corners of the eyes. This skin fold is called the epicanthus.
The bridge of the nose is broad and flat with an extended nasal tip. This nasal deformity is also known as saddle nose. Overall, the heads of sick children are smaller than those of healthy children. The auricles of the affected children are also malformed. This is also referred to as auricular dysplasia. The growth disorders continue in the development, so that the children remain short. The muscles are weak and muscle spasms may occur.
Camptodactyly is found on the hands. This is a flexion contracture of the middle joints of the little finger and, in rare cases, the ring finger as well. This is probably caused by shortening or shrinking of tendons and tendon sheaths. In addition to camptodactyly, clinodactyly can also occur in Juberg-Marsidi syndrome. In clinodactyly, a phalanx is bent laterally in the skeleton of the hand.
Another symptom of Juberg-Marsidi syndrome is microgenitalism. The penis and scrotum are underdeveloped. This is also referred to as a micropenis. There is also a testicular dystopia, i.e. an abnormal position of the testicles. The testicle is temporarily or permanently outside the scrotum.
Diagnosis & course of disease
Although the symptoms of Juberg-Marsidi syndrome are quite noticeable, since the disease is very rare, the diagnosis is usually not made directly. The first indications are deformities of the skull, low birth weight, deformities of the genitals and hearing loss. In the course of child development, physical development disorders and limitations in cognitive development are added. Only a genetic test on the child and parents can provide certainty as to whether the disease really is the Juberg-Marsidi syndrome.
Complications
The Juberg-Marsidi syndrome usually leads to significant mental and physical disorders and complaints in the patient. These can significantly restrict the life and everyday life of those affected. In most cases, patients also depend on care from family or carers. Disturbances in growth and development already occur in childhood.
A severe mental handicap also occurs. As a result, children in particular can become victims of bullying or teasing. The facial features of the patient are also changed and short stature occurs. The muscles are also relatively weak and the patient’s resilience is significantly reduced by the Juberg-Marsidi syndrome.
It is not uncommon for a micropenis to occur. The head of those affected is also significantly smaller than that of healthy people. Hearing loss and eye problems also occur. A causal treatment of the Juberg-Marsidi syndrome is not possible. Therefore, only the symptoms of the syndrome can be limited, with various therapies being necessary.
There are no particular complications. The life expectancy of the patient can be reduced by the Juberg-Marsidi syndrome. Furthermore, the patient’s parents often require psychological treatment.
When should you go to the doctor?
Parents should take their children to a doctor as soon as their offspring start showing signs of physical or mental abnormalities. If there are delays in development, difficulties within various learning processes or if reduced intelligence is perceived in direct comparison to children of the same age, a doctor should be consulted. In the case of reduced hearing ability, deformities of the ears or an overall weakly developed musculature, it is advisable to initiate check-ups. Physical peculiarities, adhesions or deformities must be presented to a doctor as soon as possible.
If children cannot learn to walk or cannot use their limbs adequately, the cause must be determined. There is cause for concern in the case of shortened fingers, optical abnormalities in the shape of the hand or the joints, and if the child is short. An early diagnosis is crucial for the effectiveness of possible therapies. Therefore, a doctor should be consulted at the first irregularities.
Boys suffering from Juberg-Marsidi Syndrome also exhibit gender growth disorders. A micropenis or abnormalities of the testicles are among the criteria that indicate a disease and should be examined. If the children feel that they are being overwhelmed during everyday play activities, if they are not becoming independent despite all their efforts, or if there are persistent problems with understanding, it is advisable to see a doctor.
Treatment & Therapy
There is no specific therapy for Juberg-Marsidi syndrome. Treatment is purely symptomatic. Occupational therapy and physiotherapy can support children in their development. Hearing specialists and ophthalmologists are also usually part of the treating team due to the impairment of the sensory organs. Surgical interventions may be indicated to correct eye misalignments and visual disturbances. In most cases, the sick children also need a hearing aid.
The earliest possible therapeutic support is essential in the treatment of Juberg-Marsidi syndrome. This is the only way the children can be supported in good time and possible development deficits can be compensated for in good time.
Outlook & Forecast
Juberg-Marsidi syndrome has an unfavorable prognosis. This syndrome represents a mutation in the patient’s genetics. Legal requirements prohibit scientists and researchers from interfering with or changing human genetics. As a result, a cure for the affected person is not possible.
In their treatment, doctors focus on improving well-being and quality of life. Unnecessary interventions that can only bring about an optical improvement are avoided. The sooner a comprehensive treatment plan is drawn up and various therapies begin, the better the chances of success for funding and the reduction of development deficits.
Since the disease is characterized by a severe mental handicap, despite all efforts, it is not possible to achieve a state of health that would enable a life without medical help and daily support. The affected person needs medication and all-day care for life. Various functional disorders as well as physical changes occur with this disease and lead to a severe impairment in coping with everyday obligations.
Surgical interventions are performed to improve natural functions. Every procedure is associated with the associated risks and side effects. Complications and new disorders can arise. In many cases, the existing symptoms trigger secondary diseases that must be taken into account when making an overall prognosis.
Prevention
Juberg-Marsidi Syndrome cannot be prevented. With the help of prenatal diagnostics, genetic defects can be detected at an early stage. Heterozygote diagnostics can be used to determine whether one of the two parents carries the defective gene and could pass it on to the child in the event of reproduction. Only in exceptional cases can the genes of unborn babies be tested for certain diseases in Germany. The genome of the embryo can often only be differentiated from the genome of the mother. Ethically, however, prenatal genetic testing is quite controversial.
Aftercare
Aftercare measures are usually very limited in Juberg-Marsidi syndrome or are not available to the affected person at all. The patient with this disease must first and foremost consult a doctor at an early stage so that there are no further complications or other complaints that could possibly further reduce the quality of life. Therefore, early detection and treatment of the Juberg-Marsidi syndrome is paramount in this disease.
Since this is a hereditary disease, it cannot be completely cured. If you wish to have children, however, a genetic examination and counseling should always be carried out so that the syndrome does not appear again in the offspring. In most cases, the symptoms of Juberg-Marsidi syndrome are treated with physiotherapy or physiotherapy.
Many of the exercises from such therapy can be repeated at home, which can further alleviate the symptoms. In the case of visual disturbances, those affected should wear visual aids so that these disturbances do not continue to worsen. Especially with children, parents must pay attention to the correct use of visual aids. In the case of psychological upsets, intensive discussions with one’s own parents or with relatives and friends are very helpful.
You can do that yourself
Patients with the Juberg-Marsidi syndrome are clearly impaired in their physical and mental development and are often unable to lead an independent life. This means that most of the options for self-help are also superfluous, since it is primarily those with custody who have an influence on the patient’s condition. Although the quality of life is severely limited by the disease, the physical and mental well-being of the patient often improves with care appropriate to the disability.
With regard to mental retardation, those affected usually attend a special education facility. The educators there take into account the individual intellectual state of the patient and support him accordingly in the best possible way. In school and other care facilities, the affected person usually gets to know helpful social contacts that make it easier to deal with the rare disease and increase the perceived quality of life.
Certain symptoms can be alleviated with appropriate medicines, whereby the parents pay attention to the correct dosage. In general, the patients usually visit various doctors several times a year, who monitor the various symptoms of the disease and order further therapies. The physical disability prevents the practice of specific types of sport, but some sporting alternatives remain. A physiotherapist supports those affected in strengthening their motor skills, which make everyday life easier.
