Syndrome Lawrence-Mouna (English Laurence-Moon syndrome). Rare autosomal recessive genetic disease characterized by obesity , mental retardation, ataxia , retinal dystrophy, hypopituitarism , a large number of fingers or toes. The syndrome is associated with dysfunction of the hypothalamic centers.
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The syndrome was first described by an ophthalmologist, John Lawrence, in 1866.
Content
Causes of the Syndrome
Lawrence-Moon syndrome is inherited in an autosomal recessive manner. This means that the defective gene responsible for the disease is located on the autosome , and you need two defective genes (one from each parent) to be born with the disease. The parents of a person with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disease.
Symptoms
Doctors identified primary and secondary signs of the disease. The primary include:
- Hyperdactyly;
- Dystrophy ;
- Incapacity ;
- Obesity;
- Hypogonadism ;
- Kidney cysts.
Secondary symptoms:
- Impaired speech or developmental delay;
- Strabismus, cataract, astigmatism, etc .;
- Brachydactyly or syndactyly ;
- Polyuria and / or polydipsia ;
- Poor coordination;
- Hypodontics;
- Congenital heart defect
In order for doctors to diagnose the disease, you must have 4 primary and 2 secondary symptoms.
Doctors can begin to investigate the diagnosis of a genetic condition when an abnormality of the limbs is found in a patient. It can be both extra fingers and legs, and their lack. In medicine, this is called " polydactyly ". The most common anomaly concerns the legs. Sometimes fingers grow shorter and longer than others. This feature is called " brachydactyly ". Legs may also be short in length.
Patients may have changes in the structure of the jaw. Taurodontizm - an anomaly in which the jaw increases in size, as the development of the body of the tooth is increased in relation to the roots. Most often affects the teeth in the back of the mouth.
Patients with the syndrome often have problems with coordination. Many patients report clumsiness in movement. They walk from heel to toe. Such disorders are a consequence of problems with the cerebellum, a subsection of the brain responsible for coordination. Cerebellar dysfunction can lead to dysfunction of the pathways of the spinal nerve, which transmit signals between the brain and muscles.
Most patients with Lawrence-Moon syndrome lose their sight. There is a " retinitis pigmentosa " - a gradual loss of vision, which progresses according to a certain pattern. Retinitis pigmentosa begins with night blindness, which worsens with the loss of the ability to distinguish colors from each other, finally deteriorating to "tunnel vision".
It was found that people living with the syndrome have a smaller than usual size of the anterior pituitary glands and may suffer from a number of different complications. The anterior part of the pituitary is responsible for regulating many functions, including the body's metabolism, emotional reactions to stimuli, physical growth and reproductive ability. The body's metabolism is controlled by thyroid-stimulating hormone. With its low level, people will experience many different symptoms: fatigue, sensitivity to cold, poor ability to concentrate, weight gain, constipation, shortness of breath.
Treatment
A group of doctors monitors the symptoms of each individual patient in order to understand the tactics of treatment. The key point in treatment is physiotherapy aimed at improving agility. To restore the gait, use orthopedic braces on the ankles and feet.
Weak functional capacity of the anterior pituitary gland, which leads to slower metabolism, poor growth and impaired fertility, can be controlled by hormone replacement therapy. Levothyroxine is a drug that mimics the function of the thyroid hormone and can speed up metabolism. It is important that patients are monitored by an ophthalmologist. There is no medicine that can stop the deterioration of vision in the syndrome, but doctors can help create corrective lenses.
For patients living with Lawrence-Moon syndrome, it is important to recognize that many of the difficulties described above are related to the neurological function of the brain. Thus, it is important to protect the basic functional capacity of the brain. Passivity and overweight aggravate neuropathy. Alcohol and recreational drugs should be avoided.
Notes
- ↑ Monarch Disease Ontology release 2018-06-29sonu - 2018-06-29 - 2018.