(E79.1) Lesch-nyhan syndrome
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Diagnosis lesch-nyhan syndrome is diagnosed Men are 13.21% more likely than Women
Men receive the diagnosis lesch-nyhan syndrome
2 192 (11.3 %)Died from this diagnosis.
Women receive the diagnosis lesch-nyhan syndrome
2 489 (16.7 %)Died from this diagnosis.
Risk Group for the Disease lesch-nyhan syndrome - Men and Women aged 5-9
Disease Features lesch-nyhan syndrome
Lesch-nyhan syndrome - what does this mean
What happens during the disease - lesch-nyhan syndrome
Clinical Pattern
How does a doctor diagnose
- Complete physical examination
- Blood tests to measure uric acid levels and enzyme activity
- Urine tests to measure uric acid levels
- Genetic testing for mutations in the HPRT1 gene
- Brain imaging tests, such as MRI or CT scans
- Neurological exams to evaluate movement and coordination
- Developmental tests to measure cognitive and motor skills
Treatment and Medical Assistance
- Provide physical therapy to improve movement and reduce pain
- Prescribe medications to reduce uric acid levels
- Perform surgery to remove stones from the urinary tract
- Prescribe medications to reduce the risk of infection
- Provide psychological counseling to help manage behavioral issues
- Provide occupational therapy to improve daily living skills
- Provide speech therapy to improve communication skills
- Prescribe medications to reduce muscle spasms and seizures
- Prescribe medications to reduce pain and inflammation
- Provide nutritional counseling to ensure proper nutrition
Lesch-nyhan syndrome - Prevention
Main symptoms of the disease lesch-nyhan syndrome
Speech disorder
(Verbal dyspraxia, Aphasia, Dysarthria, Dysfluency, Stuttering, Cluttering, Verbal apraxia, Dysprosody, Speech sound disorder, Language disorder)
Speech disorder is a condition in which an individual has difficulty producing speech sounds correctly or fluently (e.g., stuttering is a form of speech disorder). Symptoms may include repeating sounds, words, or phrases; prolonging sounds; and struggling to produce certain sounds. Speech disorders ...
Spasm
(Twitching, Contraction, Cramp, Jerking, Convulsion, Muscle spasm, Tic, Clonus, Myoclonus, Spasmodic)
A spasm is a sudden, involuntary muscle contraction that can cause pain and discomfort. It can occur in any muscle group and can be caused by a variety of different conditions. Symptoms of a spasm can include tightness, pain, and difficulty moving the affected muscle. Spasms can develop suddenly or ...
Dystonia
(Spasmodic torticollis, Involuntary muscle contractions, Involuntary muscle spasms, Involuntary twisting, Involuntary writhing, Muscle spasms, Muscle contractions, Muscle cramps, Muscle spasm, Muscle rigidity, Abnormal postures, Abnormal movements, Ab...)
Dystonia is a neurological movement disorder characterized by sustained muscle contractions, abnormal postures, and repetitive, involuntary movements. It can affect any part of the body, causing pain, impaired movement, and other physical and mental symptoms. Symptoms typically develop slowly and wo...
Vomit
Vomiting is the forceful expulsion of stomach contents through the mouth. It can be accompanied by nausea, abdominal pain, and sweating. Vomiting can be caused by a variety of conditions, such as food poisoning, motion sickness, viral infections, and migraine headaches. Symptoms can range from mild ...
Paraplegia and tetraplegia
Paraplegia and tetraplegia are neurological conditions in which there is a loss of movement and sensation in the lower and/or upper limbs, respectively. These conditions are caused by damage to the spinal cord and can be caused by trauma, stroke, tumors, or other conditions. Symptoms can range from ...
Thirst
(Dry mouth, Dehydration, Parched, Desiccated, Cotton-mouth, Ravenous, Unquenchable, Excessive drinking, Unsatisfied thirst, Parching)
Thirst is an intense desire to drink liquids. It can be caused by dehydration, illness, or certain medications. It can also be a sign of an underlying medical condition. Symptoms of thirst include feeling dry in the mouth, feeling weak, and having a headache. It can also lead to dizziness, fatigue, ...
Joint pain
(Arthritis, Rheumatism, Aches, Stiffness, Inflammation, Tenderness, Soreness, Swollen joints, Stabbing pain, Throbbing pain, Sharp pain, Dull ache)
Joint pain is a common symptom that can range from mild to severe. It is often caused by inflammation or injury to the joints, muscles, or tendons. It can be localized to one joint or affect multiple joints. It can be acute, lasting only a few days or chronic, lasting weeks or months. It may manifes...