Huntington’s disease (HD) is a devastating autosomal dominant neurodegenerative disease that is caused by an expanded CAG repeat in the HTT gene responsible for encoding the protein huntingtin. The disease is manifested by motor, psychiatric and cognitive symptoms with progressive functional decline. Clinical symptoms of HD usually develop during adult life between 30 and 50 years of age. There is currently no cure for HD as it is a multidimensional and complex disease, thus comprehensive and multidisciplinary care is needed.
The disease is a rare one that is significantly underreported in Egypt, making its burden vastly underestimated. This represents a great challenge for health professionals and the general public. Reports from North Africa about the prevalence of HD have been inconclusive thus far. A study published in 1994 determined the prevalence of the disease in Egypt to be approximately 21 per 100,000, translating to roughly 21,000 individuals. This estimate was considered the most accurate reported worldwide since no other epidemiological studies were conducted to confirm these numbers. While there are many case studies and series available, such as the first record of three families with HD in Egypt published in 1958[S1] , there is a paucity of epidemiological studies to provide an accurate estimate of the disease’s prevalence. To better understand the disease, especially in a North African context, we need further research about HD and the availability of resources needed to successfully manage the disease burden across the country and the region.
My team and I at Cairo University conducted a qualitative study to delineate the challenges facing neurologists working with HD cases. The study participants stated that one major challenge is the delayed or misdiagnosis of the disease. They attributed this shortfall to a lack of awareness about the disease among health professionals as well as the general public, along with the high cost and unavailability of genetic services for diagnosis and counseling. Another challenge is the difficulty in providing the needed care for patients in specialized centers where multidisciplinary teams exist and work together. The gap of knowledge about disease management, particularly for advanced stage HD, proves to be also very challenging, and the neurologists stressed the need for more educational courses and international collaboration for training and exchanging knowledge. The results of our study ultimately highlight the need for greater awareness about the disease in a local context in order to encourage potential patients to seek medical advice early in the disease course, while also accentuating the need to establish national registries for all HD cases for the sake of quality epidemiological data. In addition, working on improving the infrastructures needed for clinical care as well as research is essential, which requires the training of more qualified staff in different specialties outside of neurology, such as psychiatry, occupational therapy and nursing.
Collaborative efforts are also needed to establish patient support groups as there are currently none targeted towards HD in the North African region. These support groups offer an immense opportunity to assess the needs of affected persons and their families and to provide the best medical care and support. Further, the disease is also widely stigmatized and may prevent many patients from seeking medical support and bringing awareness to their disease.
Despite its challenges, there are opportunities to help address the obstacles mentioned, mainly of which are providing educational training via courses, workshops and fellowships. Numerous organizations, such as the International Parkinson and Movement Disorder Society (MDS) and the European Huntington’s Disease Network (EHDN), have contributed to such efforts through the years. At Cairo University, we also managed to organize an introductory course about HD in Egypt and the Middle East, discussing the implications of the disease in our region for the first time. The course was directed towards both clinicians and caregivers, where many expert speakers in the field covered an overview of HD and its different stages, the motor manifestations, the cognitive and behavioral manifestations, the genetic diagnosis and counseling, the caregiver experience in some Arabic countries, the status of HD in the Middle East, and how to decrease the gap between the Eastern and Western countries in HD management.
In conclusion, bold action is much needed in Egypt and all across Africa to promote improved understanding of HD and better care and support for affected persons. Some of the steps involved with achieving this overarching goal include: implementing HD national registries, providing more educational courses and training opportunities, and encouraging regional and international collaboration. Further, developing support groups for HD patients and families, providing disease-specific information in different local languages, and establishing specialized HD centers are all essential milestones that we should strive towards to ultimately address the growing burden of HD across Africa and the Middle East.
References
1. Bouhouche A, Regragui W, Lamghari H, et al. Clinical and genetic data of Huntington disease in Moroccan patients. Afr Health Sci. 2015 Dec;15(4):1232-8. doi: 10.4314/ahs.v15i4.23.
2. Kandil MR, Tohamy SA, Fattah MA, et al. Prevalence of chorea, dystonia and athetosis in Assiut, Egypt: a clinical and epidemiological study. Neuroepidemiology. 1994;13(5):202-10
3. El Grem, O.158. The first recording of three families of Huntington’s chorea in Egypt. Alexandria medical journal. 4,364-376
4. El-Jaafary S, Rashad M, Sabbah A, et al. Challenges and opportunities of huntington’s disease in Egypt: a qualitative study. Journal of Neurology, Neurosurgery & Psychiatry. 2021;92:A45.
Dr. Shaimaa El-Jaafary is an Associate Professor of Neurology at Cairo University, specializing in movement disorders such as Parkinson's disease and Huntington's disease.