What is Isaacs’ Syndrome?
Isaacs’ Syndrome also called Neuromyotonia is hyperexcitability of nerves that causes spontaneous muscular activity and the classical three symptoms to diagnose the condition are:
- Involuntary muscle twitching under the skin (called fasciculation)
- Muscle cramps or stiffness
- Myotonia or pain
It is a rare disorder that causes exhaustion and overall discomfort even during sleep.
There may also be excessive sweating in association with the muscle stiffness. The condition can manifest itself at any age from birth to adult life.
Though the etiology of the disease remains unclear, some doctors say there may be 3 main causes:
- Consequence of an underlying cancer in the body
There is some evidence to suggest the role of an autoimmune factor where antibodies are directed towards the potassium channels in motor nerve terminals of the muscles.
As mentioned previously three symptoms are a must for diagnosing this syndrome. These are: involuntary muscle twitching under the skin (called fasciculation), muscle cramps or stiffness and myotonia or pain.
Other symptoms include:
- Muscle weakness
- Progressive stiffness
- Diminished reflexes
- Delayed muscle relaxation
- Muscle wasting
- Increased sweating
- Calf muscle hypertrophy
- Muscle fibrillation
- Weight loss
These symptoms generally persist throughout the day, even during sleep or when the patient is under general anesthesia. Speech and breathing may also be affected if the muscles of the throat are involved. Smooth muscles like that of urinary bladder or muscles lining the alimentary tract and heart) muscles typically are spared.
“The good physician treats the disease; the great physician treats the patient who has the disease”
The goal of treatment is symptomatic as there is no permanent cure yet for Isaacs’ syndrome.
- Anticonvulsants, including phenytoin and carbamazepine, usually provide significant relief from the stiffness, muscle spasms, and pain
- Plasma exchange
- Intravenous immunoglobin IgG
- Botox injections
- Immunosuppressants, such as Prednisone
- ACTH injections
Neuromyotonia has been long recognized by several physicians, however it is frequently misdiagnosed or wrongly treated. This maybe due to its rarity and the variable clinical manifestation.
As Anne Frank once said ‘ If I haven't any talent for writing books or newspaper articles, well, then I can always write for myself’, I thought of penning down a lot from my personal experience, hoping to help others suffering from Isaacs’ Syndrome.
This article is my personal perspective of my experience with this condition. It provides a review of the clinical phenotypes and a record on Isaacs’ syndrome or Neuromyotonia in the way it impacted my life.
My recent research has led to an understanding of the autoimmune underpinnings of this condition and its specific associated antibodies. I have also described the do’s and don’ts, holistic alternate supportive medication, medically qualified practitioners who have proved their credibility in this domain, some affiliated medical expressions and some handy practical observation of facts.
The case study review helps us understand the spectrum of symptoms associated with this condition that causes this peripheral nerve hyperexcitability syndrome.
A couple of years ago I wouldn’t have imagined I’d be writing this note because I was healthy and hearty, not on any peculiar medication and had no known allergies except for periodic diarrhea for a couple of months. There was no history of alcohol or any other substance abuse and I believed that true healthcare reform always starts in one’s kitchen with eating healthy food.
As a senior executive in the Investment Banking space based out of Mumbai, my career experience is proof enough of my former healthy, active life--from being recognized as the Employee of the Year to having the maximum number of channel Partners to have recorded, deployment of exotic products to have bagged the maximum number of reality deals in the organization.
I am a 38 year individual with parents and a sibling in the family. Here’s a record of how my challenging walk with Isaac’s syndrome began, with the missed diagnosis. On an evening of Feb’16 during my walking session, I had a severe pain in the Lumbar region and continuous cramps in right leg. The pain could be described as some sharp object stabbing me in the lumbar area extending till the femoral region which started alleviating and aggravating.
Next morning was tough as the pain still persisted and was accompanied with enough stiffness that made my movements difficult. Gathering all my will power I presented myself to a conventional Orthopedic doctor who, after a thorough investigation put me on drugs.
Diarrhea followed the pain and all of a sudden things took a turn for the worst and seeing my Gastroenterologist again, seemed a wise decision.
He asked me to get my CPK levels tested immediately and consult a Neurologist. As the levels were very high, I preferred returning to my hometown in Kanpur as soon as I realized that there may be something serious happening to me and I preferred being in familiar surroundings. As soon as I landed, I was so incapacitated that I was taken directly to the hospital from the airport. At that stage I did not realize that my tryst with Time had just started.
The essential first step in managing the situation began with a detailed medical evaluation. One after the other, investigations started and the doctors decided to put me on steroid therapy for the next 5 days as they diagnosed Polymyositis (inflammation of muscles). After being in the hospital for a week I was advised to take up further investigations in Bombay Hospital in Mumbai under a team of experts.
Getting the Diagnosis Right
In March’16, I got under the lights with general examination, which revealed average body build, whereas motor examination reported average muscle status with wasting. Presence of stiffness was more in the upper limbs. There was excess weakness with spontaneous gross fasciculation or flickering of muscles under the skin as in both arms and in the face over the masseter muscle and around the eyes.
Coordination was normal and plantar reflex was normal. Nerve conduction study and EMG were done and confirmed the diagnosis showing neuromyotonic discharge with fibrillation, positive sharp waves and continuous muscle fiber activities. Special blood tests were conducted to detect specific antibodies, which were negative.
I was diagnosed with Isaacs’ Syndrome also called Neuromyotonia in the month of March’16. Some of the other tests showed traces of Membranous Glomerulonephritis, a slowly progressive disease of the kidney. It leads to changes and inflammation of the structures inside the kidney that help filter wastes and fluids. The inflammation may lead to problems with the functionality.
The team of doctors decided on intravenous immunoglobin therapy, injected intravenously, which is the use of a mixture of antibodies to treat a number of health conditions. Considering the tests (EMG, PET-CT, MRI Lumbar Spine, Sonography, Kidney biopsy and other tests) and treatment, my stay at the hospital was almost for a month. I was discharged from the hospital in April’16 with some medicines and a suggestion to consult another neurologist in Lucknow, if need be, with a recommendation that ‘there is no such thing as a fair fight and all vulnerabilities must be exploited,’ as Cary Caffrey says.
The Fight between the Mind and Body and the Suffering
I couldn’t lie to myself and started laughing in the ambulance not realizing that feeling better was just a temporary phenomenon. Soon my health took a tragic turn wrapped in bonkers, making me crawl through broken glass and within 3 months I was on my way to Lucknow. As it is always said, no medicine or doctor has a strike rate of 100%, I could experience it happening in my case. The medicines denied integrating with my system. Diarrhea which was on a break for a while, again took its full swing. All the symptoms returned and my hopes of recovery seemed bleak.
Unexpectedly I was getting weaker. The situation remained the same for some time when I slept for almost 14 hrs a day due to weakness and persisting pain in spite of being on heavy medication with pain killers, immunosuppressive agents, blood pressure tablets, intestine related medicines, diabetes, probiotics and steroids – the number of medicines I was taking seemed like a food platter. The daily intake of medicines went as high as 38 with enough food restrictions due to shooting sugar levels, fluctuating blood pressure and diarrhea. I was advised complete bed rest till things started to improve a bit when we decided to see Dr. Panagariya, a neurologist in Jaipur in Aug’16.
In Nov’16, I was again admitted in a Jaipur hospital for further intravenous Immunoglobulin therapy. However it had to be stopped midway because I did not respond to the treatment.
I was asked to go to Mumbai again, this time to see a different set of specialists to understand my condition a little better and
I was given some medicines with immunosuppressants and asked to continue it for some two months.
In March’17 as the overall health status didn’t show favorable improvement, I was asked to take weekly shots of ACTH injection (It may work directly on the brain in addition to stimulating the adrenal glands. It may also be used in treatment of various other childhood seizures when other treatments have failed). I started to revamp, though for couple of days there was a weird feeling in the brain.
Looking at Alternative Healers
It appeared wise to have an alternative medicine, as a mainstream in May’17 - A crucial part of my treatment agenda was Naturopath as I am always on the lookout for therapies with long term benefits without much of side effects. I came across this Naturopath center in Hyderabad and decided to try it for a week. I met doctors there and decided to stay and try it out for a month. Due to change in my daily diet chart, the stomach did settle to a great extent.
I realized that they added a lot of Coconut which has anti-inflammatory qualities in their food curries without making any change in my allopath medicines. Setting a strict standard with one’s palate is the key and crucial step to lifestyle modification.
The Indian State of Mind and Nature Awareness (July’17)
Naturopath treatment was impressive so I decided to visit Rishikesh, this time with a pinch of spiritual touch. My stay lasted there for almost a month with corrections in food habits, meditation and body posture. We all have the capacity and strength to expand our conscious mind with a journey inwards. An amalgamation of Naturopath treatment with a spiritual touch can deliver extraordinary results, if followed diligently and inculcated as a routine.
I realized all medicines and treatments have limitations, because my health began to show signs of deterioration periodically. It was time for a checkup with my monthly health status. My doctor made some changes in the medicines and asked me to wait patiently for results to happen. Pain killers which were out for a while, were back on my medicine list. I was admitted to Medanta Medicity at Gurgaon for Plasmapheresis in Dec’17. Though I was taking the procedure lightly, it was almost like a nightmare. The big intravenous cannula, which was inserted around the pelvic region, created issues with its inlet and was a nightmare till the last day of completion.
After discharge it took me 20 days to get slightly normal, as there was enough weakness and usual pain at the back and thigh area, all medications continuing as before. The journey continues, I am focusing on the journey, not the destination. Therefore if you can’t go back to your mother’s womb, you have to learn to live with the discomfort and fight back.
Medical Streams (tried & tested)
I have tried all streams of medicine and my impression on them is as follows:
Allopathic -As Gerhard Kocher said ‘Mankind has survived all catastrophes. It will also survive modern medicine’
Naturopath - ‘The art of medicine consists in amusing the patient while Nature cures the disease’
Homeopath - ‘Extreme remedies are very appropriate for extreme diseases’
Yoga - B.K.S. Iyengar, the renowned yoga teacher has said Yoga teaches us ‘to cure what need not be endured and endure what cannot be cured’ B.K.S.
Meditation practices - ‘Natural forces within us are the true healers of disease’
Music therapies - As Bob Marley has said, ‘One good thing about music, when it hits you, you feel no pain.’
My Experience and Advice on how to come to terms with Isaacs’ Syndrome?
I have summed up my experience as I learn to live and accept this condition. The most difficult part is to getting an early diagnosis and being prepared for the remissions and relapses and learning to take everyday as it comes.
Disease: Dis - Ease. Body and Mind need to be at ease and common synergy is required between the two to accept and live with the condition. Often acceptance is not easy for the mind. We need to learn not to fight the disease but learn how to live with it.
1. Closely monitor your blood and other body status regularly.
2. Most Critical: - Finding a good doctor and team is like finding a ‘guru’ and is the most important.
3. Adopting to new aspects of treatment can contribute to healing: Yoga, Meditation, Walking, Calmness of mind and body and most importantly, Being positive.
4. Make proper synopsis before consulting any doctor (he needs to know it all, from medicines to various treatments to other doctors consulted for medical tests)
5. Changes in lifestyle can work wonders (eating, sleeping, drinking habits). While on medicines, close monitoring of sugar and BP levels, eyes, stomach, kidney is must.
6. We should keep in mind that Allopath has symptomatic drugs which are not the cure; therefore trying alternate streams of medicines can be helpful from a longer term perspective.
7. One’s body can stand almost anything. It’s the mind that needs to be convinced. It is the key ingredient to recovery.
8. Be involved - for mind distraction
9. Surroundings matter - Be positive (The need is to do more even with less)
10. The self-management plan should be reviewed from time to time to ensure the advice remains current
11. A dose of care can cure the impossible
12. Right body postures can help reduce pain
13. Read about your own condition and keep yourself well informed
14. The holy trinity between the doctor, you and the treatment becomes dangerous like Bermuda triangle when there is communication gap
15. Avoid and try reducing dosage of pain killers from the physical longevity prerogative - try SRP (systematic reduction plan)
16.Careful watch on any infection, body scratches, pain, and uneasiness should be discussed with doctor
17. People on steroids and suffering from high sugar levels should maintain a strict diet chart
18. Enough water in-take with medicines - Swallowing medicines without enough water may prevent the medicine from acting properly and may even lead to undesirable side effects in some cases. One example is the class of drugs known as nonsteroidal anti-inflammatory agents
19. Eat less Sugar as you are sweet enough already - For me the following helped in controlling my sugar levels
- Bitter Gourd juice
- Indian Gooseberry juice
- Powdered seed of Jamun fruit– one spoon on an empty stomach
20. Gluten free food might relieve symptoms of diarrhea.
Use Social Networking for More information on Isaacs’ Syndrome
Contact via Facebook: Isaacs’ Syndrome, Neuromyotonia, Cramp Fasciculation Syndrome, Peripheral N
- Though it is a closed group one can connect with the admin to join
- People suffering from this disease worldwide exchange ideas and share their stories
Doctors who contributed to my journey
- Dr. Ashok Panagariya (Neurologist) He is my main doctor.
- Dr. Bhawana Sharma (Neurologist)
- Dr. Nirmal Pandey (Neurologist, Kanpur)- He was among the few who diagnosed and started the right treatment
- Dr. Khadilkar (Neurologist, Bombay Hospital)
- Dr. Saumil Shah (Gastroenterologist, Mumbai)
- Dr. Sanjeev Amen (Rheumatologist, Mumbai)
- Dr. Laxman Pillai (Naturopathy, Nature Cure Hospital, Hyderabad)
New research in this specialty: Legalization of Cannabis in India. Cannabis, also known as marijuana among other names, is a psychoactive drug from the Cannabis plant intended for medical or recreational use.
International Association for Cannabinoid Medicines:
Even Members of Parliament are supporting the medicinal use of cannabis:
On a concluding note I would like to suggest, thinking of disease constantly, will intensify it. Feel always "I am healthy in body and mind. As Charlie Chaplin once said “to truly laugh, you must be able to take your pain, and play with it". Easier said than done, but making an attempt would surely help deal with disease.
- National Organization for Rare Disorders (NORD)- (http://rarediseases.org)
- BRAIN- (http://www.ninds.nih.gov)
- Mr. Sarosh Irani (Researcher)
- Ms. Angela Vincent (Researcher)
Latest Publications and Research on Isaacs´ Syndrome
- Germline BLM mutations and metastatic prostate cancer. - Published by PubMed
- ECG Diagnosis: Brugada Syndrome. - Published by PubMed
- Germline BLM mutations and metastatic prostate cancer. - Published by PubMed
- ECG Diagnosis: Brugada Syndrome. - Published by PubMed
- Isolated seizure as initial presentation of GABAA receptor antibody-associated encephalitis. - Published by PubMed