Life can indeed throw both blessings and curse. One thing for sure, the human body itself is indeed a marvel with the many organs and structures formed by cells, enabling humans to perform many things in life. This is why it is important for you to take care of your health because health is a blessing that should not be taken lightly. However, there is no doubt that some people may not be as lucky as others due to the diseases or health conditions that affect their life and even other people around them. In this article, we will be learning about Isaacs syndrome.
Isaacs syndrome is an autoimmune nerve disorder that causes uncontrollable muscle activity. This disease is also known as neuromyotonia. Remember, there is no association with people named Isaacs with this disease. It is a very rare disease as there are currently only 100 to 200 cases reported throughout the world. This disease can develop at any age with symptoms commonly before the age of 40 and in male being more common.
It is not exactly known what has been the cause of Isaacs syndrome. It is said due to the abnormalities of the peripheral nerves to become hyperactive and fire continuously. This led to the uncontrollable nerve and muscle activity. It is theorised that there is impairment of the potassium channel complex, specifically the voltage-gated channel complex (VGKC). Since it is an autoimmune disease, this means that the immune body itself attacks its own body’s cells. The abnormal immune system produces antibodies that cause the VGKC to not function properly. VGKC is important in the nerve system to control the electrical activity of the nerve. Radiation treatment or general anaesthesia causing peripheral neuropathies is said to be associated with probability of Isaacs syndrome.
Isaacs syndrome can occur in those ages between 15 to 60 years old. Limbs are most affected although symptoms are limited to head (cranial) muscles. Symptoms include progressive muscle stiffness, continuously contracting or twitching muscles (myokymia), muscle cramping, increased muscle size (hypertrophy), delayed reflexes, gradual muscle loss and increased sweating (hyperhidrosis). Speech and breathing may be affected when the muscle in the throat such as the pharyngeal or laryngeal muscle are involved. Around 20% of people with Isaacs syndrome also have Morvan syndrome. Symptoms of Morvan syndrome include severe insomnia, amnesia, agitation, delirium, seizures, irregular heartbeats, memory loss and personality changes. Isaacs syndrome may be accompanied by other diseases such as rheumatoid issues such as myasthenia gravis, Hashimoto thyroiditis, rheumatoid arthritis and systemic lupus erythematosus (SLE), connective tissue disorders and tumour such as thymoma and small cell lung cancer.
To diagnose this disease, doctors will initially evaluate patients’ medical history through a series of questions before proceeding with physical examinations. Electromyography (EMG) test is often used to detect abnormalities in the nerve functions. Laboratory test may include tests for blood or urine test for antibodies such as antibodies to contactin-associated protein-like 2 (Caspr2), the striational voltage-gated calcium channel, gliadin, glutamic acid decarboxylase (GAD), muscle acetylcholine receptor and VGKC. Imaging tests such as CT-scan or MRI may be used to detect abnormalities such as tumours associated with Isaacs syndrome or signs of muscle/nerve damage. EMG test, antibodies test and imaging test are usually combined to confirm diagnosis of Isaacs syndrome.
There is no cure for Isaacs syndrome but there is definitely treatment available to help alleviate symptoms. Treatment depends on the symptoms and severity of the disease. Treatment includes anticonvulsant medications, oral corticosteroids anti-rheumatics such as methotrexate. Plasma exchange or intravenous immunoglobulin (IVIG) are usually beneficial for patients. There may be many other medications used in treating patients with Isaacs syndrome if it overlaps with other conditions. It is important for patients to follow all doctor’s advice to ensure symptoms are well-managed.
The most common question asked with many rare diseases, including this Isaacs syndrome, is the ability to love with these conditions. Yes, you can live with Isaacs syndrome even in reality it may cause disability. The good thing is, it rarely leads to life-threatening events. However, people with Isaacs syndrome and Morvan’s syndrome may have severe symptoms that can be fatal. In many cases, the outcome depends on the other conditions on top of Isaacs syndrome.
It can be concluded that Isaacs syndrome is a rare disease affecting the nerve, causing uncontrollable muscle activity. The syndrome can develop with other health conditions. It remains unclear what exactly causes the syndrome. Even though there is no cure for this syndrome, treatments do help manage symptoms in the long run. Treatment can help prevent damages to the muscle and nerves. Due to the nature of the disease which is rare, researchers are still finding answers to the many unresolved or unknown issues relating to the syndrome. This in hope will help to overcome the delay in diagnosing the condition as it can be similar to many other conditions and provide better treatment options with favourable outcomes.
