Doctor syndrome is an extremely rare condition that causes serious neurological problems in mainly men. Women typically exhibit much milder symptoms. Congenital deep sensorineural hearing loss, vision loss, hypotonia, impaired muscle coordination, developmental delay and intellectual disability are just some of the symptoms of the condition. Most patients die at an early age due to recurring infections and complications.
- Epidemiology Physician syndrome
- Causes of illness
- Symptoms: Ears, muscles, face, development
- Diagnosis and examinations
- Therapy
- Prevention
- Heredity abnormality
- Prognosis
Epidemiology Physician syndrome
The Doctor syndrome has a preference for men. Women usually have much milder symptoms. In women, hearing loss or deafness usually occurs as the only symptom; this starts in adulthood (> 20 years). The National Institute of Health (NIH) in the United States labels Arts syndrome as extremely rare. This means that Arts syndrome, or a sub-type of Arts syndrome, affects fewer than 200,000 people in the US population. Only a few families with this condition have been described in the medical literature.
Causes of illness
Mutations in the PRPS1 gene are the cause of Arts syndrome. The PRPS1 gene contains instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1 or PRPP synthetase 1. This enzyme is involved in the production of purines and pyrimidines (the building blocks of DNA), RNA (ribose nucleic acid) and molecules such as ATP (adenosine triphosphate). ) and GTP (guanosine triphosphate) which are energy sources of body cells. The PRPS1 gene mutations that cause Arts syndrome replace free protein building blocks (amino acids) in the PRPP synthetase 1 enzyme. The result of the enzyme is probably unstable, meaning that it does not perform its task or no longer performs it properly. The disruption of purine and pyrimidine production affects energy storage and transport in the cells. When these processes are affected, it leads to serious problems in tissues that require a large amount of energy, such as the nervous system. This results in neurological problems characteristic of Arts syndrome. For now, the cause for the increased risk of respiratory infections in Arts syndrome is unclear.
Symptoms: Ears, muscles, face, development
The Arts syndrome is characterized by many symptoms that do not always have to be present at the same time:
- absence of reflexes
- ataxia (medical term for “impaired balance/impaired muscle coordination”)
- profound congenital sensorineural hearing loss: complete or near-complete hearing loss caused by abnormalities in the inner ear
- optic nerve atrophy: severe vision loss, usually manifested during puberty. This is usually progressive.
- hypotonia (decreased muscle tone) (spasticity)
- peripheral neuropathy: damage to peripheral nerves with pain, weakness, numbness and tingling especially in the hands and feet that develops in early childhood
- recurring infections, especially of the upper respiratory tract
- intellectual disability/developmental delay: this is usually not progressive
- delayed motor development
Diagnosis and examinations
This is done through genetic testing of the PRPS1 gene.
Furthermore, the following results point to the Arts syndrome:
- Absence/decreased hypoxanthine in the analysis of purines in the urine
- Absence of PRS enzyme activity in erythrocytes (red blood cells)
- Identification of a disease-causing mutation on the sequence analysis of PRPS1
- Serum uric acid concentration lower than average
Investigations after the initial diagnosis:
- analysis of the family tree for other possible affected individuals and carrier women
- audiometry (hearing examination): examination of hearing loss
- assessment of intellectual abilities: Repeated neuropsychological examinations are recommended, for example to draw up an educational program.
- neurological examination: symptoms of hypotonia, ataxia, presence / absence of tendon reflexes
- eye examination: Evidence of optic atrophy
Therapy
There is no treatment available for optic atrophy. Cochlear implants help with better communication skills. an adapted educational program that is tailored to the needs and cognitive skills of the patient helps with an intellectual disability.
Prevention
As a preventative measure, a patient with the Arts syndrome can best maintain good health. That is why it is best for a patient to prevent infections: wear protective clothing, wash hands thoroughly, do not come into contact with people who have (recently) had a cold (mild infection with symptoms in the nose and throat) or have had the flu. .. An annual flu shot and other routine vaccinations are further recommended.
Heredity abnormality
The inheritance of the disorder occurs in an X-linked pattern. The associated gene of this condition is located on the X chromosome. This is one of the two sex chromosomes. In men – who have only one X chromosome – a mutation in the only copy of the cell causes the condition. In women – who have two X chromosomes – a mutation in one of the two copies of the gene in each cell sometimes causes symptoms of the condition. In other cases, these women have no symptoms.
In the small number of Arts syndrome cases that have been identified, affected patients have inherited the mutation from a mother who carries an altered copy of the inherited PRPS1 gene.
Prognosis
In general, patients with Arts syndrome have a poor prognosis. They have increased morbidity and mortality from infections and complications. Men usually die at a young age (during childhood). Since Arts syndrome is extremely rare, scientifically sound information is based on small studies and only few case reports are available.
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