Rare Classroom: Cervical Dystonia

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Cervical Dystonia

Also called spasmodic torticollis.

What is Cervical Dystonia?

  • Dystonia is a neurological movement disorder that causes the muscles to contract and spasm involuntarily, cervical dystonia affects the neck and shoulders​
  • Cervical dystonia causes abnormal movements and awkward posture of the head and neck.  These movements can be sustained or jerky  ​
  • It is estimated that 60,000 people in the US are affected​
  • A diagnosis of cervical dystonia is based upon clinical examination, a detailed patient history, and knowledge of the disorder. No specific laboratory or imaging test confirms a diagnosis of cervical dystonia. ​
  • Cervical dystonia affects females approximately twice as often as males. ​
  • It is the most common form of focal dystonia in an office setting. ​
  • Cervical dystonia may affect individuals of any age but typically develops in people between 40 and 60 years of age.​
  • Cervical dystonia affects people of all ethnic backgrounds. ​

How Do You Get It?

  • The cause of cervical dystonia is unknown
  • Risk factors include:
    • Genetic inheritance (family history)
      • Positive family history in approximately 10-25% of patients​
    • Genetic mutations
      • Identified genes include GNAL, THAP1, CIZ1, ANO3
      • At this time there is no gene test that is recommended for clinical purposes in people with cervical dystonia​
    • Triggering events, such as:
      • Injury to the head or neck (not proven)​
      • Infection that causes neurological deficits​
      • Certain medications such as anti-psychotics or certain nausea medications with dopamine receptor blocking activity​
    • Females are affected at 2X the rate that males are
    • Age (onset often occurs between 40-60)

What Are The Symptoms?

  • The specific muscles affected include the trapezius, splenius capitis, sterno-cleidomastoid, and levator scapulae
  • Symptoms of cervical dystonia include:
    • Muscle twisting
      • Chin toward shoulder (torticollis)​
      • Ear toward shoulder (laterocollis)​
      • Chin straight up (retrocollis)​
      • Chin straight down (anterocollis)​
      • Shifting of the head on the shoulders in a forward (anterior sagittal shift) or backward (posterior sagittal shift) direction​
      • Postural tremor of the hands​
    • Pain
      • Neck pain that can radiate into the shoulders ​
      • Headaches​
      • The pain from cervical dystonia can be exhausting and disabling​
    • Cervical spine arthritis​
    • Compression of nerve roots​
    • Narrowing of the spinal cord in the neck (cervical stenosis)​
    • Bone spurs that may reduce the amount of space in the spinal canal. This can cause tingling, numbness and weakness in your arms, hands, legs, or feet​

How Is It Treated?

  • Treatments for cervical dystonia fall into several categories:
    • Oral Medications
      • These are used on their own or alongside botulism toxin injections
      • Anticholinergics
        • Can be very effective for some​
        • Side Effects can limit use​
      • Benzodiazepines
        • Enhances the effect of gamma-amino-hydroxybutyric acid (GABA)​
        • There is a risk of dependence​
      • Baclofen
        • A type of muscle relaxant often used to treat dystonia​
        • Can also be infused by a portable pump​
      • Dopaminergic agents/Dopamine-depleting agents
        • Some patients with primary dystonia will respond to drugs which increase the neurotransmitter dopamine: Sinemet (levodopa) or Parlodel (bromocriptine)​
        • Many patients respond to agents which block or deplete dopamine: Clozaril (clozapine), Nitoman (tetrabenazine), or Reserpine​​
    • Injection of botulism toxin
      • Botulism toxin is currently thought to be the most effective treatment for cervical dystonia​
      • This treatment has been available since the late 1980’s​
      • Botulinum neurotoxin is derived from the bacterium Clostridium botulinum
      • Botulism toxin is a nerve “blocker” that binds to the nerves that lead to the muscle and prevents the release of acetylcholine, a neurotransmitter that activates muscle contractions. Blockage of the message leads to muscle spasms being reduced or eliminated
      • The Type A and Type B forms can be used. They function by breaking up proteins in the neuron; the different types target different proteins.
      • Botulism toxin is delivered by injection directly into overactive muscles​
      • Physicians decide where to inject based both on palpitation of muscles, exam of the patient, and often an EMG (electromyograph), which measures muscle activity​
      • The botulism toxin usually begins to take effect 3 days after injection  ​
      • Within 2-4 weeks patients notice peak benefit​
      • Patients usually need to have another injection after 3-4 months as symptoms wear off​
      • Patients can develop resistance to the toxin after repeated injections​​​
    • Surgery
      • Deep brain stimulation. In this procedure, a thin wire is guided into the brain through a small hole cut into the skull. The tip of the wire is placed in the portion of the brain that controls movement. Electrical pulses are sent through the wire to interrupt the nerve signals making your head twist.​
        • May be appropriate for patients who lose their response to botulinum toxin or have a form of cervical dystonia that is difficult to treat with the injections, in particular, anterocollis​​
      • Cutting the nerves. Another option is to surgically sever the nerves carrying the contraction signals to the affected muscles.​
        • Although this has been reported to be effective, this approach is limited by the ability to access the nerve involved, the need for considerable expertise of the surgeon, and the potential for side effects. Side effects from the surgery are not uncommon and following surgery, there is a long period of rehabilitation.​
    • Physical and occupational therapy
      • The goals of physical therapy include bringing the head position back toward normal, increasing the range of motion, and decreasing the pain, thereby increasing functional ability.​
      • The physical therapist may employ a variety of techniques to achieve these goals. Primarily the physical therapist will gently move the neck through its range of motion, stretching the spasming muscles, applying heat and pressure. 
      • Sensory tricks
        • A physical gesture or position which serves to temporarily interrupt dystonia—such as touching the cheek or the back of the head​
        • Can also involve prosthetics which provide passive simulation of the stimulation​
    • Biofeedback
      • Electromyography (EMG) biofeedback helps reduce pain
      • Sleep/rest schedule
        • Cervical dystonia movements often disappear in the sleep and may not reappear for a period of time after waking​
        • Patients may get additional relief by taking breaks during the day to lie on their back​​
    • Learning techniques for coping​

Where Can I Learn More???

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