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(G24.1) Idiopathic familial dystonia
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378 605 in individuals diagnosis idiopathic familial dystonia confirmed
4 248 deaths with diagnosis idiopathic familial dystonia
1% mortality rate associated with the disease idiopathic familial dystonia
Diagnosis idiopathic familial dystonia is diagnosed Women are 14.12% more likely than Men
162 570
Men receive the diagnosis idiopathic familial dystonia
1 507 (0.9 %)Died from this diagnosis.
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216 035
Women receive the diagnosis idiopathic familial dystonia
2 741 (1.3 %)Died from this diagnosis.
Risk Group for the Disease idiopathic familial dystonia - Men and Women aged 0
In Men diagnosis is most often set at age 0-89
Less common in men the disease occurs at Age 90-95+in in women, the disease manifests at any age
In Women diagnosis is most often set at age 0-95+
Disease Features idiopathic familial dystonia
Absence or low individual and public risk
Idiopathic familial dystonia - what does this mean
Idiopathic familial dystonia is a rare genetic disorder that is inherited in an autosomal dominant pattern. it is caused by a mutation in a gene that codes for a protein involved in the regulation of neurotransmitters. this results in involuntary and sustained muscle contractions that cause abnormal postures and movements.
What happens during the disease - idiopathic familial dystonia
Idiopathic familial dystonia is a disorder caused by a genetic mutation that affects the basal ganglia region of the brain, leading to a disruption in the normal functioning of the brain's motor pathways. this disruption results in abnormal muscle contractions that cause involuntary and sometimes painful muscle spasms, as well as other abnormal movements.
Clinical Pattern
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How does a doctor diagnose
- Physical examination
- Neurological examination
- Blood tests to rule out other causes of dystonia
- Genetic testing to identify the mutation causing the condition
- Brain imaging studies such as MRI or CT scan
- Electromyography (EMG) to measure the electrical activity of muscles
- Lumbar puncture to check for genetic markers of the condition
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of idiopathic familial dystonia and improve the quality of life.
- Prescribing medications to reduce muscle spasms and pain
- Physical therapy to improve strength, flexibility, and balance
- Occupational therapy to improve daily living skills
- Speech therapy to improve communication skills
- Counseling to help cope with the disease
- Surgery to implant a deep brain stimulator
- Alternative therapies such as acupuncture, yoga, and massage
11 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Idiopathic familial dystonia - Prevention
Idiopathic familial dystonia is a rare genetic disorder that affects the muscles and can cause involuntary movements and abnormal postures. prevention of this disorder is largely dependent on genetic testing and counseling for those with a family history of the disorder. early identification and management of symptoms can help to reduce the severity of the disorder.