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Muscle Disorders

Muscle Disorders

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The human body has an astonishing 650 muscles. These flexible yet strong bands of tissue allow us to eat, speak, stand, walk, dance, move, and live healthy lives. Unfortunately, trauma, disease, infection, and other issues can affect your muscles, impairing their function and affecting overall wellbeing. Neuro-spinal medical professionals can help you ward off, diagnose, and resolve muscle disorders so you can have a full range of mobility, engage in daily activities, and enjoy an excellent quality of life. Read on to learn more about the symptoms, causes, and treatments for some of the most common muscle disorders.

Congenital Myotonia

Congenital myotonia is an inherited condition characterized by chronic excessive tension of the skeletal muscles (those used during motion and activity). "Myotonia" simply means difficulty releasing contracted muscles. This condition is caused by a mutation of the gene CLCN1, which regulates chloride channels. In patients with this abnormal gene, chloride ions are not properly transmitted to the skeletal muscles, leading to myotonia. About one in every 100,000 people suffers from some form of this condition, although it is much more common among Scandinavian people.

Symptoms

People who suffer from this disorder feel as if their muscles are locked or frozen in place, preventing them from running, dancing, walking, crouching, or making other normal movements. Congenital myotonia can also affect the facial muscles, which can obstruct vision and the hands, which can severely impair motor function.

Congenital myotonia can cause potentially hazardous falls.

Unfortunately, congenital myotonia can also cause potentially hazardous falls, if a patient's muscles tense and he or she can no longer stand upright. Younger congenital myotonia patients are more vulnerable to this issue than adults, and these impacts can damage their developing bodies. Children with this condition may also have difficulty eating or drinking without gagging.

Many patients experience symptoms of congenital myotonia in spurts, particularly when they attempt to move after long periods of rest or inactivity. For some, engaging in repeated movements to "warm up" the muscles can relieve congenital myotonia symptoms.

Types of Congenital Myotonia

There are two main forms of congenital myotonia:

  • Thomsen disease: this kind of congenital myotonia is autosomal dominant, meaning that only one parent needs to have the abnormal CLCN1 gene to pass it to the child. Thomsen disease usually appears very early in childhood and causes milder symptoms.
  • Becker disease: this disease is recessive. In most cases, both parents of a child with Becker disease have the irregular CLCN1 gene, but often do not manifest symptoms of congenital myotonia. Becker disease generally emerges at a later age and creates more severe symptoms, including tension attacks and chronic weakened muscles.  

Treatment Options

Currently, congenital myotonia is an incurable muscle disorder. However, doctors offer the following treatments to manage and alleviate symptoms:

  • Oral medications such as mexiletine, tocainide, quinine, phenytoin, procainamide, carbamazepine, acetazolamide, and dantroline. However, many of these drugs produce harmful side effects, such as bone marrow issues and kidney stone development, so doctors must weigh their disadvantages against their benefits.
  • Lifestyle and behavioral modifications. Avoiding long periods of inactivity can help to prevent episodes.
  • Physical therapy to help retrain and strengthen muscles.

Many doctors also recommend genetic testing and counseling as a preventive measure against congenital myotonia. This allows couples to evaluate their risks and make appropriate decisions about family planning.

Essential Tremors

A nervous system malfunction can cause persistent, steady shaking throughout the body. These fits of trembling and twitching are called essential tremors. While not typically life threatening (essential tremors are also called "benign tremors"), this condition can severely interfere with patients' daily lives. Essential tremors may disrupt motor function, speech, and daily activities. They most often manifest in patients' hands (some doctors refer to this disorder as "shaky hand syndrome"), which makes driving, writing, reading, and other actions challenging to execute.

Essential tremors may disrupt motor function, speech, and daily activities.

Approximately 10 million Americans suffer from this condition, making it the most widespread movement disorder. Some patients inherit this disorder from their parents, but doctors cannot explain why and do not know what causes essential tremors when there is no clear congenital link. Patients typically experience essential tremors when they attempt to move the affected muscles.

Symptoms

Essential tremor symptoms are often confused for those of Parkinson's disease, which can occur concurrently, but is a separate and much more serious condition. Patients with essential tremors typically experience involuntary muscle shaking in the hands, head, vocal muscles, or other areas. Essential tremors usually start more mildly and become more violent over time, especially if the patient tries to use or control the disordered muscle. The twitching motions associated with Parkinson's disease often occur when the muscle is in a resting state, while essential tremors usually only manifest when the patient is awake and active. In some cases, essential tremors may disrupt patients' coordination and gait.

Certain circumstances may bring about or exacerbate essential tremors. These include:

  • Anxiety
  • Extreme heat or cold
  • Psychological stress
  • Exhaustion
  • Caffeine consumption
  • Psychiatric drugs
  • Sleep deprivation
  • Low blood sugar
  • Social or environmental pressure (essential tremors may worsen when patients are on the spot)

Treatment Options

The treatment for essential tremors depends on the severity of the condition. Patients who experience only mild shaking may be able to manage their disorder with simple lifestyle changes such as avoiding caffeine or using relaxation techniques to diminish stress. For more severe cases, doctors may recommend the following treatments:

  • Oral medications such as anti-seizure drugs, beta blockers, or tranquilizers.
  • Botulinum toxin (Botox) injections into the affected muscle. This substance prevents muscles from contracting and shaking. Botox injections will need to be repeated every few months to remain effective, and they may cause uncomfortable side effects.
  • Adaptive devices-larger, heavier writing instruments or glasses may help patients go about their daily lives more easily.
  • Deep brain stimulation, which involves inserting an electrical device into the thalamus, the part of the brain that can cause convulsions.  
  • High intensity focused ultrasound treatment, a non-invasive procedure that also targets the thalamus to adjust the cells that control tremors.

Fibromyalgia

An illustration of fibromyalgia symptoms

Over 5 million Americans, most of them women, suffer from fibromyalgia, a condition characterized by widespread muscle soreness, exhaustion, and impaired cognitive function. Doctors haven't determined the exact cause of fibromyalgia, but they believe that hereditary factors may play a role, and infections, psychological distress, and physical injuries can also precipitate or worsen this condition. Preliminary research indicates that people with fibromyalgia have a greater volume and high sensitivity neurotransmitters, amplifying the body's natural pain signals and causing chronic discomfort.

Symptoms

Fibromyalgia is a systemic disorder that can present varied symptoms. Patients with this condition often experience:

  • Chronic muscular aching on both sides of the body, above and below the torso.
  • Exhaustion, which typically occurs because muscular soreness interferes with sleep.
  • Headache.
  • Numbness or a prickling feeling in the limbs or extremities.
  • Difficulty concentrating and distraction, which many patients call "fibromyalgia fog."   
  • Depression and anxiety symptoms.
  • Tightened muscles, especially upon waking.
  • Abdominal cramps.
  • Irritable bowel syndrome (IBS).
  • Localized areas of heightened sensitivity, also called "tender points."
  • Bladder issues.

Treatment Options

Unfortunately, fibromyalgia is an incurable disorder. However, patients can manage the uncomfortable symptoms associated with this condition using several techniques. These include:

  • Aerobic exercise, which can assist with anxiety, depression, sleep issues, and exhaustion.
  • Painkillers, which may be over-the-counter or prescribed. Fibromyalgia patients should avoid narcotics, since these may actually exacerbate symptoms or become addictive.
  • Anti-seizure medications. The FDA has approved the use of these substances to alleviate fibromyalgia symptoms.
  • Antidepressants. These drugs may assist patients with the physical and psychological symptoms associated with fibromyalgia. However, there is conflicting research on their efficacy for fibromyalgia treatment and they can cause serious side effects, such as suicidal thoughts.
  • Psychological therapy. Counselors can help fibromyalgia patients cope better with the stress of this condition.
  • Proper nutrition. Patients are often advised to eat a healthy, balanced diet to promote muscle health and avoid caffeine, which can exacerbate fibromyalgia symptoms.

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Hemifacial Spasms

Due to facial injury, nerve damage, tumors, blood vessel disorders, or Bell's palsy (malfunction of the facial nerve), some patients experience hemifacial spasms, involuntary contractions of one side of the facial muscles. This relatively rare condition is not typically dangerous, but it can be uncomfortable and interfere with patient's daily lives. It also develops and worsens over time. Hemifacial spasms can make patients feel self-conscious about their appearance and prevent them from engaging in certain activities, impacting their overall quality of life.

Symptoms

Since this condition is localized and relatively straightforward, its symptoms are fairly simple. Patients with hemifacial spasms may experience:

  • Mild to severe facial twitching, which usually begins around the eyelid and, over time, affects the entirety of the face. In some patients, this tic may start at the chin and move upward as the condition progresses. Patients may experience these convulsions while awake or asleep.
  • Ocular tearing (as a result of frequent eyelid contraction).
  • Localized discomfort in the region behind the ear.
  • Changes in hearing.

Patients with any of these symptoms should contact their doctors for assistance, since hemifacial spasms can be treated more successfully when caught early.

Treatment Options  

Doctors recommend several primary treatments for hemifacial spasms, which include:

  • Botulinum toxin (Botox) facial injections. This material paralyzes the facial muscles so they cannot contract, preventing spasms. Botox injections usually last for about three months, at which point patients will need another round of treatment. Unfortunately, Botox treatment becomes less successful over time, since the facial tissue accommodates to the toxin and produces antibodies.
  • Anti-convulsant or nerve medications such as carbamazepine or phenytoin. However, doctors are often reluctant to prescribe these treatments, as they can lead to dependency and cause troubling side effects.
  • Microvascular decompression surgery. During this procedure, which is typically reserved for more advanced cases, a neurosurgeon create a tiny opening in the back of the head and inserts a sponge between the nerve and surrounding blood vessels to relieve pressure.

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Muscular Dystrophy

An illustration of a normal arm and one with muscular dystrophy

Muscular dystrophy refers to a group of disorders caused by genetic malfunctions that interfere with protein production in muscles. A lack of or abnormal protein development weakens the muscles, which can impair mobility, interfere with cognitive function, and cause a wide array of uncomfortable symptoms. Muscular dystrophy can cause severe disability and seriously affect patients' quality of life. Unfortunately, this condition is also progressive, meaning that it continually worsens over time.  

Types of Muscular Dystrophy

There are many kinds of muscular dystrophy, each of which presents slightly different symptoms. The most common forms of muscular dystrophy are:

  • Duchenne muscular dystrophy. This is the most common type, affecting about 50 percent of sufferers. Duchenne muscular dystrophy largely affects males and usually manifests in toddlers between two and three years old. This disorder can be inherited, but two-thirds of patients with Duchenne muscular dystrophy have no congenital risk factors for this disease. Patients with this condition may experience:
    • Difficulty walking, running, or jumping, which can lead to falls  
    • Enlarged calf muscles
    • Trouble sitting up from a reclining position
    • Muscle soreness or tightness
    • Learning disabilities
  • Becker muscular dystrophy. This condition typically appears in teenaged patients or those in their 20s. It involves many of the same symptoms as Duchenne muscular dystrophy, except that it develops more gradually and presents milder symptoms.
  • Limb-girdle muscular dystrophy. This is a localized form of muscular dystrophy that primarily affects the arms and legs. It may also impact cardiac muscles and cause respiratory difficulties. This disorder typically appears in children and teenagers.
  • Steinart's disease. This is a form of muscular dystrophy characterized by involuntary muscle tension, particularly in the neck and facial regions. This disorder can also cause cardiovascular issues, endocrine disorders, and cataracts.
  • Facioscapulohumeral (FSHD). This type of muscular dystrophy can manifest in older patients, from teenagers to those in their 40s. This disorder first affects the shoulder and facial muscles before spreading throughout the rest of the body.
  • Congenital muscular dystrophy. Like the Duchenne form of this disorder, congenital muscular dystrophy typically begins in toddlers, but it can affect both female and male patients. This disease may only cause minimal symptoms, or it can quickly develop and cause severe disability.

Treatment Options

At this time, muscular dystrophy cannot be cured, only managed. Doctors tailor treatment programs according to the particular type of muscular dystrophy a patient suffers from and his or her medical history. Medical care for muscular dystrophy typically involves some combination of the following:

  • Corticosteroid medications, which may help slow the development of muscular dystrophy, but can cause unpleasant side effects such as bone degeneration and weight gain.
  • Cardiovascular drugs, if muscular dystrophy impacts the heart muscles.
  • Ventilators or other machines that assist with breathing, if muscular dystrophy affects respiratory muscles.
  • Wheelchairs, walkers, canes, and other devices that can help restore patients' ability to move.
  • Physical therapy to enhance patients' range of motion.
  • Braces, which can help hold the body in proper position and assist with mobility.
  • Gentle exercise to help maintain and strengthen muscles.

Myasthenia Gravis

Myasthenia gravis is a disorder in which the body's nerves cannot communicate effectively with the muscles. This condition can cause muscle weakness in the face, throat, eyes, neck, or limbs. In many cases, abnormal antibodies prevent muscles from receiving nerve impulses, possibly as a result of malfunction of or tumor development in the thymus gland. In rare cases, this disease can also come about as a result of congenital factors. Myasthenia gravis can disrupt patients' sight, speech, and functioning in daily life. This condition can appear in patients at any age, from fetuses to seniors. Myasthenia gravis can be progressive, spreading throughout the body, but it often remains localized.

Symptoms

The symptoms of myasthenia gravis depend largely on the area of muscles affected. This condition often begins in the eye muscles, leading to double vision and sagging eyelids. These symptoms can be uncomfortable, make patients feel self-conscious, and even interfere with eyesight.

This condition often begins in the eye muscles, leading to double vision and sagging eyelids.

The second most common starting point for myasthenia gravis is the facial and throat muscles. Improper nerve function and muscular degeneration in this region can restrict facial expression, make chewing difficult, prevent patients from swallowing easily, obstruct breathing, and interfere with speech.

In more severe progressive cases, myasthenia gravis may advance to the arms, legs, or neck. Deterioration of these muscles can interfere with patients' gait and posture, as well as prevent them from raising their heads or moving their arms.

Treatment Options

Doctors recommend a wide array of treatments for myasthenia gravis, depending on the severity of patients' symptoms and the root cause of this disorder. Treatment options for this condition include:

  • Immunosuppressant medications, which prevent the body's immune system from producing disruptive antibodies. However, these drugs can lead to serious side effects, such as liver or kidney damage, and make patients more vulnerable to illness.
  • Corticosteroids, which restrict the body from generating antibodies. Like immunosuppressant drugs, these can also cause unpleasant side effects, especially if used for prolonged periods.
  • Cholinesterase inhibitors, which help nerves and muscles communicate better. These medications do not address the cause of myasthenia gravis, but they can help to manage this condition.
  • Intravenous immunoglobin. This therapy interjects healthy antibodies, which encourages your body to stop producing irregular ones.
  • Plasmapheresis. This treatment filters antibodies out of the blood. It can be quite effective, but its results last just several weeks and this procedure is relatively invasive.
  • Thymectomy. If abnormal growths on your thymus gland cause this disorder, your doctor may recommend a surgical procedure to remove it.   

Myopathy

For any number of reasons, patients' muscle fibers may not function properly, creating myopathy. There are many types of myopathy, but they all cause muscle weakness, which can range from a minor annoyance to a life threatening disability.

Symptoms

The symptoms of myopathy vary based on the source of this disorder, but the general symptoms include:

  • Muscular degeneration
  • Cramping
  • Involuntary contractions
  • Tightness or stiffness
  • Swelling
  • Developmental delays (particularly for congenital myopathy in children)

Treatment Options

Doctors cannot typically cure myopathy, but they can help patients slow the progression of this disease and remain more comfortable. Treatment options depend on the type of disorder, but they generally include:

  • Prednisone, a drug that can diminish swelling for inflammatory myopathy.
  • Corticosteroids, which can slow muscular dystrophy and dysfunction.
  • Braces to support the muscles.
  • Spinal surgery, which can improve posture and allow for easier breathing.
  • Physical therapy.
  • Lifestyle changes (such as avoiding strenuous exercise or losing weight to decrease pressure on the muscles).
  • Metabolic or endocrine treatments, if these conditions are the source of the myopathy.

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Olivopontocerebellar Atrophy

Damaged neurons in the brain, or olivopontocerebellar atrophy, can lead to muscular degeneration and dysfunction throughout the body. Specifically, this disorder typically leads to ataxia, a lack of mobility control, and MSA, or multiple system atrophy, which leads to issues with coordination, motion, and balance.

Symptoms

Olivopontocerebellar atrophy can present a variety of symptoms, including:

  • Limited mobility
  • Difficulty walking
  • Poor coordination
  • Falls
  • Impaired speech
  • Stiffness
  • Muscle weakness
  • Spasms
  • Depression and anxiety
  • Tremors
  • Sleep disorders
  • Ocular distortions

Treatment Options  

Unfortunately, olivopontocerebellar atrophy is an incurable and progressive disease. Most patients ultimately die from this condition, usually due to brain atrophy about 20 years after the initial onset of symptoms. To improve patients' mobility, function, and quality of life, neurologists may recommend:

  • Physical therapy, which helps to preserve and strengthen muscle function
  • Mobility aids such as wheelchairs, walkers, or canes
  • Oral medications such as anti-tremor drugs or antidepressants  

Doctors usually create customized treatment plans for patients who suffer from olivopontocerebellar atrophy to keep them as comfortable and healthy as possible.    

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