Understanding the Effects of Isaacs’ Syndrome

Isaacs’ syndrome is an extremely rare neuromuscular disorder that causes significant muscle stiffness, slower reflexes, and constantly contracting or twitching muscles. Other names for this disorder are neuromyotonia, Isaac’s-Metern’s syndrome, and continuous muscle fiber activity syndrome. Though the exact prevalence of Isaacs’ syndrome is unknown, there are between 100 and 200 reported cases in the current medical record. Because it is so rare, research is still ongoing to discover more information about this condition.

Symptoms

Isaacs’ syndrome is a diverse disorder. Its characteristic symptom is myokymia, continuous muscle twitching that many describe as “bag-of-worms” movements. This descriptor comes from the undulating or rippling motions visible under the skin. Even during sleep or under general anesthesia, the muscles continue twitching. Myotonia-like symptoms also occur, which means that voluntary muscles take additional time to relax after contracting. For example, a person with Isaacs’ syndrome may not be able to open their hands or eyes after closing them for a short period.

Other Symptoms

Alongside the main muscle symptoms, Isaacs’ syndrome has a variety of other effects. Many people have ataxia or difficulty walking because they cannot coordinate voluntary muscle movements. They may also develop balance issues. Excessive sweating or hyperhidrosis is common. Isaacs’ syndrome most prominently affects the trunk, legs, face, and neck, though it can affect many other muscles and body parts. Notably, it tends not to influence cardiac and smooth muscles. Symptoms may range from inconvenient to debilitating and chronically improve or worsen.

Morvan’s Syndrome

Some individuals with Isaacs’ syndrome develop a life-threatening complication: Morvan’s syndrome. This autoimmune disease has many of the same symptoms as Isaacs’ syndrome but its primary effect is severe insomnia that causes a complete lack of sleep for weeks or months in a row. A lack of this nature has many physiological effects, as well as hallucinatory behavior, memory loss, and personality changes.

Tumors

A notable percentage of people with Isaacs’ syndrome have a tumor on the thymus gland or thymoma. Normally, the thymus gland sits between the lungs and is only active until puberty. When it activates, the thymus gland is the source of many specialized cells with autoimmune functions. Because of this, thymoma has links to myasthenia gravis and many other autoimmune diseases. The tumor itself can cause chest pain and cough.

Causes of Isaacs’ Syndrome

Doctors and researchers currently do not know what specifically causes Isaacs’ syndrome, though they can categorize the disease by the underlying cause. The three categories are acquired, paraneoplastic, and hereditary. Of these, the acquired form is most common, making up almost 80% of cases. Current theories point to the acquired form being the result of antibodies affecting the neuromuscular junction. Specifically, antibodies bind to potassium channels on the motor nerve, which results in muscle hyper-excitability.

Diagnosis

Because Isaacs’ syndrome is such a rare disease, diagnosis can be a difficult process. The best diagnostic method currently calls for ruling out more common conditions and disorders. The doctor conducts a basic neurological exam, looking for any issues with coordination, reflexes, strength, and sensation. If they suspect a neurological disorder, physicians refer patients to neurologists, who can perform more specialized and specific tests. It can take years for experts to reach a diagnosis of Isaacs’ syndrome.

Issues During Diagnosis

One of the main difficulties of diagnosis is that Isaacs’ syndrome mimics symptoms of many other, significantly more dangerous, diseases. Some of its symptoms resemble those of motor neuron diseases such as amyotrophic lateral sclerosis or ALS. Occasionally, doctors misdiagnose Isaacs’ syndrome as multiple sclerosis. Because the symptoms can point to many dangerous disorders, and doctors want to make sure they make the right diagnosis, the process is often emotionally exhausting and stressful for patients.

Peripheral Nerve Hyperexcitability

Because of the rarity of the condition and the diagnostic difficulties, some doctors choose not to diagnose Isaacs’ syndrome specifically. Instead, they refer to a group of symptoms as “peripheral nerve hyperexcitability.” Within this umbrella term are disorders like benign fasciculation syndrome, Morvan’s syndrome, cramp fasciculation syndrome, and Isaacs’ syndrome. The differences between these conditions are often merely a matter of severity, and diagnosis is often largely subjective.

Treatment

While there is no known cure for Isaacs’ syndrome, doctors can easily treat its effects. Anticonvulsants are effective at providing relief from muscle stiffness, spasms, and pain. Botox injections also provide some short-term improvement. Individuals who have the acquired form have reacted positively to plasma exchange. They may also respond well to immunosuppressants for long-term relief.

Prognosis

Ultimately, the long-term effects of the disorder are unknown, so physicians hesitate to provide an official prognosis. However, they do believe that the underlying causes play a significant role in how severe Isaacs’ syndrome is. Modern research has improved experts’ understanding of the disorder, and treatment is usually quite successful. Symptoms generally do not deteriorate into more serious issues, which implies an ultimately positive prognosis.