Isaacs Syndrome
Overview
Isaacs syndrome also called neuromyotonia is a rare neuromuscular disorder. It is a muscle fiber activity syndrome, a quantal squander syndrome, and a rare neuromuscular disorder The condition causes nerves within your peripheral nervous system to be overly excited, leading to involuntary muscle firing.
People with the condition experience stiffness, and cramps, in their muscles. Isaacs syndrome is an autoimmune peripheral nerve disorder that causes neuromuscular manifestations, including continuous twitching of muscles.
It is a nerve hyperexcitability syndrome that presents as continuous motor activity. It can also affect your autonomic nervous system, leading to changes in sweating and heart rate.
Not sure how many people have it, but only a few cases have been reported.
Symptoms
Symptoms worsen over time and can affect daily activities. They generally happen throughout the day, even during sleep.
They include:
Ataxia –trouble coordinating movements.
• Progressive muscle stiffness
• Continuously contracting or twitching muscles (myokymia) - feels like worms under the skin
• Cramping, stiffness, weakness, and muscle cramping that worsen
• Delayed muscle relaxation. Muscle symptoms are common in the arms and legs and can affect other muscles too.
• Excessive sweating
• Insomnia and fatigue
• Changes in the heart rate
• There is trouble breathing or speaking if the muscles of the throat are affected.
Causes & Risks
The condition Isaacs' syndrome could be –
• Hereditary - This type of Isaacs’ syndrome is genetic. It’s passed down from one generation to another - inherited.
• Acquired: This type of Isaacs’ syndrome is an autoimmune condition. This condition happens when your immune system attacks normal cells like they are foreign organisms.
• In Isaacs’ syndrome, about 50% of people have antibodies that target channels that control the movement of the electrolyte potassium into and out of your nerve. Potassium moving in and out of the nerve affects nerve firing.
• Although Isaacs' syndrome cannot be cured, the disease is generally not fatal.
Test & Diagnosis
So, how is Isaacs syndrome diagnosed?
• The doctor will order tests to confirm Isaac’s syndrome or rule out other disorders. Tests may include
• Blood tests are ordered to identify certain antibodies present in up to half of people with Isaacs’ syndrome.
• Nerve conduction studies and electromyograms, measure how your muscles and nerves work. The Electromyography shows abnormal doublet and triplet discharges of high intraburst frequency as well as myokymic and neuromyotonic discharges. Fasciculation and fibrillation potentials are common.
• Imaging studies such as a CT scan or MRI.
• Nerve conduction studies and electromyograms which measure how the muscles and nerves work.
Treatment
There’s no cure for Isaacs’ syndrome.
• Treatment aims to address patients' symptoms and maximize their daily function. If Isaacs’ syndrome is associated with another autoimmune disease or a malignancy, then treatment of these other conditions is important as well. For Isaacs’ syndrome, your healthcare provider might recommend:
• Antiseizure medicines are prescribed to relieve muscle stiffness, spasms, and pain.
• Immunosuppressive medications such as azathioprine and methotrexate.
• Intravenous immunoglobulin, a solution containing antibodies from donors.
• Oral corticosteroids
• Plasma exchange to filter toxins and unhealthy antibodies out of your blood.
• The condition is most commonly diagnosed by a neurologist or neuromuscular specialist.
Living With
Living with Isaacs' syndrome, also known as neuromyotonia, is very tough to handle.
This rare neurological disorder is characterized by continuous muscle stiffness, involuntary muscle contractions, and excessive muscle activity, leading to muscle twitching, cramps, and difficulty in relaxing muscles.
The symptoms can impact daily life, causing discomfort, muscle fatigue, and difficulties in performing routine tasks. Isaacs' syndrome can lead to sleep disturbances due to constant muscle activity, affecting overall quality of life.
Managing the condition typically involves medications to reduce muscle hyperactivity and alleviate symptoms. Despite the challenges, individuals with Isaacs' syndrome often require ongoing support and adaptive strategies to cope with the symptoms and improve daily functioning.
Complications
Isaacs' syndrome can lead to various complications due to the continuous muscle activity and stiffness
• It certainly causes complications associated with this rare neurological disorder including persistent muscle pain, fatigue, and muscle weakness due to prolonged muscle contractions.
• Individuals with Isaacs' syndrome may experience difficulties with fine motor skills and coordination, impacting their ability to perform tasks requiring precise movements.
• Sleep disturbances often arise from constant muscle activity, leading to disrupted sleep patterns and fatigue.
• Emotional challenges, such as anxiety or frustration, can also occur due to the discomfort and limitations caused by the condition.
• Handling Isaacs' syndrome includes medicines and therapies to reduce muscle hyperactivity and alleviate symptoms, but despite treatment, complications can persist and affect an individual's life.
