It began suddenly in 2010 – Alina Ali started feeling inexplicably fatigued and her voice grew hoarse.
Alina, now 53, was then working as a teacher at a secondary school in Kajang, Selangor. Initially, she thought her condition was due to work-related stress.
She went for a check-up but the doctor found nothing abnormal. Some of her colleagues asked why she “seemed lazier lately”. Some even attributed her condition to “black magic” or “disturbance by a spiritual entity”, leaving Alina feeling unsettled.
She consulted specialists from various fields – from eye doctors to psychiatrists – and even sought the help of traditional healers but none of them could give her a clear answer.
By the end of 2015, her symptoms had worsened. She experienced severe body weakness but thought her exhaustion was due to taking care of her children after her husband suddenly passed away from a heart attack in August that year.
Then, sometime in 2016, she experienced a condition called ptosis or drooping of both her upper eyelids. Alina was referred to a neurologist at Hospital Serdang in Selangor. After undergoing several tests, she was diagnosed with myasthenia gravis (MG), a rare autoimmune disease.
“I didn’t know what to feel – relieved because I finally knew the cause or afraid because I had never even heard of the disease before,” she told Bernama when met recently.
For her treatment, she was prescribed the medication pyridostigmine and steroid prednisolone. Despite the numerous side effects, she remained determined to continue with the treatment. The side effects of pyridostigmine include diarrhoea, watery eyes and increased secretion of saliva while the side effects of the steroid include a rounder face; weight gain; spike in blood sugar; narrow and fragile blood vessels that rupture easily; and being prone to infections of the skin, blood and lungs.
Alina, who retired from teaching in 2021, is now active in the MG patient community, sharing her experiences and continuously offering support to others. Although MG patients do not fully recover, the condition is manageable and Alina is committed to raising public awareness about the disease.
OFTEN MISUNDERSTOOD
Associate Prof Dr Rabani Remli, a lecturer and consultant neurologist at the Faculty of Medicine, Universiti Kebangsaan Malaysia (UKM) and Hospital Canselor Tuanku Muhriz (HCTM), said MG is a chronic autoimmune disease caused by disruptions in the transmission of nerve impulses to the muscles.
As a result, the muscles become weak when a person performs repeated physical movements. The disease is neither contagious nor inherited but it is often misunderstood as a psychological issue or mistaken for other conditions such as stroke or eye muscle disorders.
MG patient, Alina Ali, faced various difficulties, even being admitted to the ICU several times due to MG Crysis, which usually attacks the lungs causing shortness of breath.
She explained that MG is difficult to diagnose because its symptoms can be confusing and can vary. Patients often present with drooping eyelids or double vision, difficulty speaking clearly and trouble swallowing. Some may experience muscle weakness in the arms and thighs, making it hard for them to climb stairs or carry out daily routine activities.
Although there is no official data on the prevalence of MG in Malaysia, previous studies have shown that MG cases among Malaysians display similar clinical characteristics to those in other countries.
She said MG can affect anyone but based on research and observation, women are more frequently diagnosed at a younger age, usually between 20 and 30, while men are usually diagnosed later, around their 60s.
Currently, over 100 patients, a majority of whom are Malay and Chinese, are undergoing follow-up treatments for MG at HCTM UKM.
Dr Rabani said MG is classified as ocular MG, which only involves the eye muscles, or generalised MG which involves muscle weakness in other parts of the body such as the swallowing muscles, respiratory muscles, and arm and leg muscles.
“(Identifying the MG category) is important for determining the treatment approach,” she told Bernama when interviewed at her clinic.
“Detecting MG requires a careful approach due to its unclear and inconsistent early symptoms. Taking a detailed patient history is key to identifying MG. We need to examine the patient’s symptoms in order to record a pattern known as ‘fatigability’ – symptoms that worsen with physical activity or repeated muscle use and improve after rest. This ‘fatigability’ pattern is a hallmark of MG.”
Neurological examinations are necessary, including asking the patient to move their arms and legs, and raise their eyelids. Blood tests are conducted to detect antibodies such as acetylcholine receptor (AChR) and muscle-specific kinase (MuSK).
Further evaluation may include nerve conduction tests like repetitive nerve stimulation or single fibre electromyography, which measure the rate of nerve-to-muscle transmission. A chest CT scan is also done to detect any tumour or enlargement of the thymus gland, which is often associated with MG.
“If there is swelling in the thymus, we will refer the patient for thymus gland surgery. So far, thymus gland tumours are a major cause of this disease,” she added.
Although MG cannot be completely cured, it can be controlled with proper treatment. Medications such as pyridostigmine work by enhancing the transmission of nerve signals to muscles, temporarily reducing muscle weakness. However, the effects may vary from person to person.
PSYCHOLOGICAL EFFECTS
Dr Rabani said more serious cases of MG are prescribed immunosuppressive treatments such as steroids, azathioprine or mycophenolate mofetil that can help reduce antibody production. However, these treatments require close monitoring as each medication can have short- and long-term side effects.
In more complicated cases or during an “MG crisis”, emergency treatments such as IVIG (intravenous immunoglobulin) or plasma exchange are used to neutralise and eliminate antibodies more quickly. These treatments have also been found to be very effective during critical phases or before surgery.
Assoc Prof Dr Rabani Remli.
“If a patient is found to have a tumour in the thymus gland, they will be advised to undergo a thymectomy, which is the surgical removal of the thymus. Patients who undergo this surgery, especially younger ones with the presence of AChR antibodies, usually show better symptom control in the long term.
“Newer treatments (with medications) like eculizumab or rituximab are also used in cases of MG that are very difficult to control, and they have shown effectiveness in highly complex cases. However, the cost of these treatments is high,” she said.
Alongside medical treatment, patients also need to make sure they get enough rest and manage stress better. Avoiding certain medications that can trigger MG is also crucial.
“We always remind patients to consult their doctor before taking any new medication,” said Dr Rabani.
Psychological effects also pose a major challenge for MG patients, she said, adding some of her patients suffer from depression simply because they are misunderstood by people who brand them as lazy, spoiled or merely having psychological issues.
“The loss of control over body functions and the difficulty in planning daily activities are also major causes of depression as patients don’t know when their body will ‘fail to function’. This makes it hard for them to work or live a normal social life.
“Patients who were previously active may have to quit their jobs or reduce their social activities,” she added.
CHALLENGES
The main issue in managing MG in Malaysia is the low level of awareness, not only among the public but also among general medical practitioners. Many patients are initially thought to have ENT (ear, nose, throat) or ophthalmological issues, or psychiatric conditions before finally being referred to a neurologist.
“Many patients receive treatment late because they don’t know this disease exists,” Dr Rabani said, adding early treatment can reduce the risk of an MG crisis.
The neurologist also hopes more support groups like the Malaysian Rare Disorders Society (MRDS) and other non-governmental organisations will continue to assist MG patients and their families.
“Support from the community and close family members is not only important for sharing information but also invaluable in uplifting the spirit of those newly diagnosed,” she said.
If patients are diagnosed with a tumor in the thymus gland, they will be advised to undergo thymectomy, which is surgery to remove the thymus. Photo credit Mayo Clinic.
Meanwhile, MRDS president Nadiah Hanim Abdul Latif said people living with rare diseases continue to face various challenges in obtaining accurate diagnoses and suitable treatments.
Describing their situation as a “diagnostic odyssey” – a long journey often involving misdiagnosis and inappropriate treatments – she said many adult patients are misdiagnosed multiple times and given unsuitable medications before the experts finally provide an accurate diagnosis.
Although the government has allocated specific funding for the rare disease community, she believes the amount is insufficient compared to the actual needs of the patients.
She said initiatives like MySalam insurance, which now includes rare diseases, are seen as a positive step but only a small number actually benefit from them.
“We believe that the funding (for people living with rare diseases) can benefit more people if the age eligibility limit is reduced from 18 years to birth, as 70 percent of them are children under the age of five.”
She also suggested that the list of rare diseases under the MySalam scheme be aligned with the list from the Ministry of Health.
Nadiah Hanim also pointed to social stigma as one of the major challenges faced by people living with rare diseases.
Misconceptions like linking rare diseases to superstitions or vaccination side effects make it harder for patients to access education, employment and appropriate treatment.
“Such stigma is not only wrong but directly affects patients’ quality of life,” she said.
She added that as a volunteer-based organisation, MRDS also faces limitations in terms of capacity, funding and continuity of advocacy work.
“We live with these issues every day but to keep going, we need more people willing to join us. Rare disease is a very niche area and it’s truly challenging to find dedicated, sincere advocates,” she said.
