Temel Kavramlar
Huntington's disease, an inherited neurodegenerative disorder, causes progressive motor, cognitive, and psychiatric symptoms in a 51-year-old woman, requiring comprehensive clinical evaluation and genetic testing for diagnosis and management.
Özet
The content describes the case of a 51-year-old woman presenting with worsening short-term memory, difficulty with organization and planning, and involuntary movements (chorea) in her extremities. The patient has a family history of dementia and balance problems accompanied by depression and temper outbursts.
Based on the patient's symptoms, family history, neuroimaging findings, and genetic testing, she was diagnosed with Huntington's disease (HD), an inherited, autosomal dominant, progressive, and fatal neurodegenerative disorder. HD is characterized by involuntary movements, behavioral impairment, and cognitive decline, typically affecting patients between the ages of 30 and 50.
The differential diagnosis considered other neurological conditions, including multiple sclerosis, neuroacanthocytosis, systemic lupus erythematosus, Alzheimer's disease, frontotemporal dementia, corticobasal degeneration, Parkinson's disease, and various spinocerebellar ataxias. However, the patient's presentation, family history, and genetic testing results confirmed the diagnosis of HD.
HD is caused by an expanded CAG (cytosine-adenine-guanine) repeat in the HTT gene, which codes for an abnormal version of the huntingtin protein. The number of CAG repeats determines the risk and severity of the disease, with more than 40 repeats being diagnostic for HD.
The content outlines the management of HD, which includes symptomatic treatments for chorea, behavioral and psychiatric symptoms, cognitive impairment, and seizures (in juvenile cases). Supportive care, physical and occupational therapy, and patient/family education are also crucial. Investigational therapies targeting the underlying genetic cause are being studied, but no effective treatment for preventing or reversing the progression of HD is currently available.
HD is a relentlessly progressive disorder, leading to disability and death, with a mean survival of 15-20 years from the onset of symptoms. Early diagnosis is important to provide genetic counseling, access to symptom-relieving treatments, and support for patients and their families.
İstatistikler
The patient had a 43-repeat CAG expansion of the HTT gene, which is diagnostic for Huntington's disease.
Brain MRI showed striatal atrophy in the caudate nucleus.
The mean age at death in major HD studies ranged from 51 to 57 years, with a mean duration of illness of approximately 19 years.
Alıntılar
"HD is an inherited, autosomal dominant, relentlessly progressive, fatal neurodegenerative disease characterized by involuntary movements, behavioral impairment, and cognitive decline."
"The number of CAG repeats present in the HTT gene determines whether an individual will have HD. Those with six to 35 CAG repeats will be unaffected (although, as noted above, more than 26 copies is considered abnormal; such individuals may pass on a longer expansion to any offspring)."
"HD is a relentlessly progressive disorder leading to disability and death. The mean age at death in all major series ranged from 51 to 57 years, but the real-world range is broader. Duration of illness varies considerably, with a mean of approximately 19 years."