Unraveling Huntington's Disease: A Report on Genetic Testing, Clinical Presentation, and Disease Progression

被引：4

作者：

Ahmed, Moutushi ^{[1
]}

Mridha, Debasish ^{[2
]}

机构：

[1] Khulna Med Coll, Internal Med, Khulna, Bangladesh

[2] Michigan Adv Neurol Ctr, Neurol, Saginaw, MI USA

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2023年 / 15卷 / 08期

关键词：

disease progression; cognitive symptoms; motor symptoms; cag repeats; clinical presentation; huntington's disease;

D O I：

10.7759/cureus.43377

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This study presents the clinical features and disease progression of a 39-year-old male patient diagnosed with Huntington's disease (HD). The diagnosis was confirmed by direct genetic testing, using DNA obtained from a blood sample that revealed expanded cytosine-adenine-guanine (CAG) repeats in the huntingtin gene (HD gene). The patient exhibited motor symptoms, including chorea, muscle rigidity, coordination difficulties, and speech and swallowing impairments. Cognitive symptoms comprised impaired judgment, planning difficulties, slowed thinking, memory lapses, and attention problems. The patient's progressive deterioration resulted in wheelchair dependency and increased reliance on supportive care. This report highlights the significance of genetic testing in confirming HD diagnosis and emphasizes the need for a multidisciplinary approach to manage the symptoms and improve the patient's quality of life.

引用

页数：4

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