By Balkish Awang
KUALA LUMPUR: Alia, 15, (not her real name) was rushed to the Hospital Kuala Lumpur (HKL)’s emergency unit after developing stroke-like episodes with sudden muscle weakness on the right side of the body.
A computed tomography (CT) scan showed evidence of stroke on her left brain. Given that this is a rare disease especially involving a young patient, the doctor had to take further tests on Alia to confirm the diagnosis.
A special test conducted on the patient confirmed that she has developed MELAS, an acronym that stands for Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes.
Citing the case during an interview with Bernama recently, HKL Neurologist Dr Ahmad Shahir Mawardi said the patient was later referred to undergo physiotherapy, physical therapy as well as to seek rehabilitation physician for further treatment.
“Several months later, the patient showed positive development and regained muscle strength and that she was able to walk again,” he added.
According to Dr Ahmad Shahir, MELAS syndrome is a genetic condition that affects the nervous system and muscles, and it is categorised as a rare disease.
MELAS is usually diagnosed in childhood and among youth and patients and those with the syndrome may experience a wide range of symptoms that worsen over time.
To date, no specific data is available on the number of patients with the disease in Malaysia, but based on his experience handling such cases at HKL, Dr Ahmad Shahir said to date, it is estimated that less than 20 cases are related to MELAS.
The patients were those ranging from the teenaged group to adults in the early 40s, he added.
Melas syndrome symptoms
According to Dr Ahmad Shahir, the disorder has an estimated prevalence of 1 in 4,000 people worldwide with the rare disorder having the probability of affecting both males and females in equal numbers.
“As for the signs and symptoms of MELAS, the patient experiences disturbance in the brain function or encephalopathy, disturbance in the muscle function in which the muscle fibres do not function properly or known as myopathy, headaches or disturbance in specific nervous system.
“The patient’s condition worsens over time. The nerve and muscle function in the body deteriorates when he or she reaches the age of youth to adulthood,” he said.
Elaborating on the matter, he said the patient can develop the syndrome as early as 10 years old and among the early signs are disturbance in the muscle function in many parts of the body or the inability to undertake in vigorous exercises.
Besides that, he said the MELAS onset typically presents as recurrent attacks of epileptic seizures, stroke episodes or stroke involving sudden neurological symptoms.
“These stroke episodes can weaken half of the body as well as affect the patient’s vision, ability to speak and intellectual function.
“Disturbance to the mental health and cognitive function can occur. This usually occurs during childhood and progressively worsens when the patient reaches adulthood. Patients with MELAS may also experience heart problems, diabetes and chronic fatigue.
He said given that MELAS syndrome is a permanent condition, patients are advised to seek periodical treatment as well as take their medication based on the doctor’s instruction besides attending physiotherapy sessions as recommended.
“Don’t lose hope as while there is no cure for this disease, there are many other options to manage the symptoms of the condition.
“It’s important for the community to learn about this rare disease including MELAS syndrome and this helps family members to seek early treatment whenever a family member develops symptoms of the disorder,” he said adding that Malaysians’ awareness toward this rare disorder is generally still low.
No specific medication
Meanwhile, Malaysian Rare Disorder Society (MRDS) Advisor, Professor Dr Thong Meow Keong said as proof that an individual develops the MELAS syndrome, several tests need to be conducted.
Dr Thong, who is also a Professor of Paediatrics and Board-Certified Consultant Clinical Geneticist at the University of Malaya Medical Centre, said others include blood test, brain MRI (magnetic resonance imaging) scan, muscle biopsy and genetic test.
“So far, there is no specific medication to treat the MELAS syndrome.
“However in general, treatment given is empirically supported and is focused on restoring celluluar energy through amino acids such as L-arginine and citrulline, COQ10 enzyme as well as riboflavin vitamin,” he added.
He said even among the medical fraternity, there is still lack of understanding on the MELAS syndrome.
He also said that patients who are suspected of developing the syndrome should be referred to the medical centre with genetic and neurological expertise as well as with facilities to treat the disease.
“The patient can also be referred to a genetic clinic for genetic counselling and for this group, having a strong network of supportive family is crucial,” he said.
Raise awareness
MRDS President Nadiah Hanim Abdul Latif said the rise of the internet and user-generated content has provided a venue for quick and broad dissemination of information, not all of which are accurate and reliable.
“Sensationalist elements are still prevalent in disinformation (false and misleading content) to gain public sympathy without providing the real facts or supported by strong evidence. As such, efforts must be intensified to instil knowledge and awareness on the rare disease in Malaysia.
“We often hear of treatment for the rare disease as very costly and can run up to thousands of ringgit. This negative perception must be corrected,” she added.
Nadiah Hanim said that not all rare diseases have the medication or treatment, and in fact, she added the majority of rare disorders do not require costly treatment as no ‘orphan drug’ is available or approved to treat the condition.
(An orphan drug is not developed or marketed because its extremely limited use makes it unprofitable).
“The expenses are more on living cost, mobility needs, access to support services, learning and inclusive jobs, etc,” she added.
MRDS, she said is always open to collaboration with the relevant parties especially the media in ensuring that accurate and reliable information is channelled to the public.
“As an association, our focus is to raise public awareness on rare diseases in general. Our advocacy strategy is to ensure that all types and categories of diseases are diagnosed more quickly, accurately and supported by the health system that can accommodate and improve the quality of life of all individuals with rare disorders,” she added.
She said the association is also focused on championing the basic rights and wellbeing of the rare disorder community to ensure they do not remain vulnerable.
“We collaborate with the government all stakeholders including medical experts and individual support groups of persons with rare disorders as well as other patients to formulate the National Policy for Rare Diseases in line with the national framework for this disease and hope that the policy will be launched in the near future.
“We also help to set up patient groups or individual categories by organising activities for the support group. This association is always expanding its advocacy on rare diseases both locally and abroad including supporting the (United Nations) resolution ‘on addressing the challenges of persons living with a rare disease and their families’ at the World Health Organisation (WHO) level,” she added.
At the same time, she hopes that the government would continue to support the rare disorder community, noting that public empathy can go a long way.
“This includes policy formulation, increasing the annual aid fund for the patients, law amendments such as making the Persons with Disabilities (OKU) Act more comprehensive , to strengthen the empowerment network from inclusive education, equitable job opportunity and access to support, including for health and social care.
“It is our sincere hope that members of the public are aware that the rare disease (MELAS) is not communicable by direct or indirect contact. This disease will not have any effect on the physical health of the people,” she added. – BERNAMA
