Huntington disease in Egypt Big challenges for a mysterious disease 

1. Huntington disease
in Egypt
Big challenges for a
mysterious disease
by Dr/ Mohamed Gamal Sayed Ismaiel

2. • Huntington’s disease (HD) is a devastating
autosomal dominantly inherited neurodegenerative
disorder, causes deterioration in individual’s physical
and mental abilities, with onset between 30-50 years
of age.
• occurs in 2.7 per 100,000 inhabitants worldwide,
and 10 per 100,000 in Europe,
• Egypt has the Highest global point prevalence at 21
per 100,000 according to a new report , “Rare Disease
Clinical Research: Untapped Potential in MENA”
Minimum Prevalence of HD Globally
Warby et al. 2009.

3. • The prevalence of Huntington disease in Egypt is
uncertain. Although many cases were found, there is lack
of epidemiological studies to estimate the true
occurrence of the disease in Egypt.
• A study was done in Assuit between 1988–1990 to
estimate the prevalence rate of HD in Egypt, and recorded
21 cases per each 100,000 population .
• * Since 1990, no further research has been
conducted. However, a study in Alexandria evaluated the
clinical and molecular aspects of HD showed that Most of
the cases had a positive family history . The
symptoms observed and the number of CAG repeats in
the Egyptian patients indicated typical HD genotype
and phenotype.

4. • It is believed that HD is more common in Egypt and Arab countries. Cultural
factors may largely explain this fact. Large families, high rates of consanguinity,
are major contributing factors for high levels of congenital and genetic diseases in
the Middle East .
• As reported, the rate is double the prevalence of Huntington’s in Europe, and 11
times higher than the U.S. average.
• However; no single study of the nearly 130 studies conducted in the last ten
years related to the illness has included patients from Egypt .

5. • It is understandable for sponsors to focus
their clinical trial efforts in Europe, both
due to the high prevalence rates and the
extensive past experience working in
these countries. But the exclusion of
Egypt when it has such a significant
Huntington’s disease population is
unacceptable. This presents a
tremendous missed opportunity, both for
the sake of clinical research, but also for
the thousands of patients and families
with no access to potential relief or cure
for their declining quality of life

6. • Other challenges related to HD in Egypt
include:
• late or misdiagnosis,
• lack of awareness about the disease
amongst physicians and the public,
• inadequacy of the genetic testing and
unavailability of treatment.
• Lack of experienced specialists, absence of
specialized centers and lack of facilities for the
patients and their families

7. Many efforts have to be done in order to improve the condition of HD patients in
Egypt.
• raising up the awareness of the disease to help early diagnosis and management of
Huntington’s disease.
• more resources are needed to build up teams and specialized centers to provide the
best care for the patients and families.
• Sponsors should make much more research for HD in less developed countries like
Egypt to help estimate the real prevalence rate of HD in such countries and to detect
any preventable risk factors like marriage of relatives .
• International collaboration can largely help to face the challenges related to HD in
Egypt.

8. References
• 1. Rachel V. Brady “Rare Disease Clinical Research: Untapped Potential in MENA”. March 2019.
• 2. Kandil MR, Tohamy SA, Fattah MA, Ahmed HN, Farwiez HM. Prevalence of chorea, dystonia and athetosis
in Assiut, Egypt: A clinical and epidemiological study. Neuroepidemiology. 1994;13(5):202-10.
• 3. Dessouky LMI. Clinical and molecular study of Huntington Disease. Alexandria University, 2011.
• 4. Huntington’s Disease in Arab Countries, Heba M. Mahdy. Journal of Huntington’s Disease: 4 (2015) 205–
208.
• 5. Huntington’s disease in Egypt; A big challenge for a mysterious disease, S. El-Jaafary, A. Sabbah, H. Amer
(Cairo, Egypt). Meeting: MDS Virtual Congress 2020, abstract number: 241.