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亨丁頓舞蹈症

Name of disease:

Huntington's Disease

ICD-10 diagnosis code:

G10

Causes:

Most cases are inherited in autosomal dominant pattern of inheritance. Cases are associated with the mutation of “huntington” gene on chromosome 4

Mode of inheritance:

Huntington’s disease cases are inherited from parents in autosomal dominant pattern.

Prevalence:

1-2/ 200,000

Diagnosis:

The diagnosis of Huntington’s disease can be confirmed with clinical evaluation, detailed patient history and specialized tests Computerized tomography (CT) scanning, magnetic resonance imaging (MRI) or electroencephalography (EEG) can be done to confirm the diagnosis.

Age of onset:

At any age, but usually develop between 30 and 50

Common signs and symptoms:

Movement disorder Voice abnormality Behavioral changes Decrease in size of the outer layer of brain due to loss of brain cells Dementia EEG abnormality Emotional problem Involuntary muscle stiffness, contraction or spasm Abnormal eye movements Trouble with balance and walking Swallowing problems Weight loss

Available treatments (medicinal and non-medicinal):

The current treatment of Huntington’s disease is mainly the use of medications. Tetrabenazine will be used to treat repetitive and involuntary movements with Huntington’s disease.

Disease management tips:

Patients may suffer from emotional symptoms, and anti-depression drugs may be prescribed to relieve their anxiety Patients may need occupational therapy for their involuntary movement and stiffness Due to the trouble with balancing and walking, patients may need special home care and their caregivers should pay extra attention when taking care of their daily lives Special high calorie food preparations may help the affected individuals to maintain weight during the later stages of Huntington’s disease

References:

https://rarediseases.org/rare-diseases/huntingtons-disease/ https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=399/

Other useful websites:

Patient Groups: Huntington’s Disease Society of America https://hdsa.org/find-help/community-social-support/hdsa-support-groups/ Huntington’s Disease Youth Organizationhttps://en.hdyo.org