Huntington’s Diagnosed in Woman 10 Years After Symptom Onset

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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A recent report describes the case of a Chinese woman with a family history of Huntington’s disease (HD) who presented with symptoms but was not diagnosed until 10 years after symptom onset.

The case study, “Report of a family with Huntington’s disease,” was published in the journal Ibrain.

The patient, a 55-year-old woman, was hospitalized in 2019 after showing involuntary limb movement for more than 10 years. Her symptoms were lessened when she was calm and absent while sleeping, but worsened when she became nervous.

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Her symptoms gradually worsened, but since disease onset she’d never experienced dizziness, headaches, limb convulsions, or swallowing difficulties, and she never choked while drinking water. She was hospitalized, albeit without a clear diagnosis or special treatment.

She took an oral Chinese medication, but, upon its failure to improve her condition, she went to the hospital for further diagnosis and treatment.

Her medical history was uneventful, with no register of chronic diseases, such as high blood pressure and diabetes, as well as infectious diseases, traumatic surgery, blood transfusions, or food and drug allergies.

Her family history, however, revealed that five people experienced similar symptoms, including her father, sister, and brother. Both her father and her sister died early, at around 50 years of age.

Neurological examination showed she had a clear mind and to-the-point answers, but impaired orientation and executive function, as well as slow responses and memory loss.

Additionally, she showed dancelike involuntary movements affecting her arms, legs, and torso. This was accompanied by weakened muscles and moderate cognitive impairment, as shown by a score of 20 in the Minimental State Examination (MMSE). A brain MRI showed certain abnormalities, including skrinkage of the midbrain.

Genetic analysis confirmed the presence of excessive CAG repeats within the huntingtin (HTT) gene, a total of 43. (The normal range of CAG repeats is between 10 and 35.)

At the hospital she received Haldol (haloperidol), an antipsychotic medication often used off-label to treat Huntington’s chorea (jerky involuntary movements), and itopride, a medicine used to treat gastrointestinal conditions.

The patient’s symptoms ameliorated with the medication, and she was discharged from the hospital.

Overall, this case is another example of how Huntington’s disease requires confirmation by genetic testing and highlights the need for further therapeutic interventions to slow disease progression.

“We urgently look forward to new breakthroughs in the research of gene silencing and modification and the emergence of drugs that can prevent disease progression as soon as possible to bring greater benefits to HD patients,” the researchers concluded.