Rare Classroom: Blepharospasm

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:

Blepharospasm

What is Blepharospasm?

  • Blepharo means “eyelid.” Spasm means “uncontrolled muscle contraction”
  • Usually begins mildly and then can progress to severe
  • 5 per 100,000 individuals in the US
  • Treatment includes oral medications, botulinum toxin injections (which work the best), and surgery 
  • No laboratory tests exist to make a definitive diagnosis of benign essential blepharospasm. A diagnosis is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic symptoms.
  • Usually occurs from ages 50-70
  • Aggravating factors include wind, bright lights, pollution, and stress
  • It is estimated that approximately 2,000 new individuals are diagnosed with BEB each year in the United States. The prevalence of BEB in the general population is approximately 5 per 100,000 individuals.

How Do You Get It?

  • Benign essential blepharospasm affects women more often than men. The average age of onset is 56.
  • Epidemiologic reviews have revealed a family history ranging from 7 to 27.8% of cases
  • The cause is unknown in most cases
  • History of light sensitivity or eye dryness may be risk factors
  • Can occur as part of multiple sclerosis
  • Can be triggered by certain drugs, such as estrogen replacement therapy, long term use of benzodiazepines, and certain Parkinson’s drugs
  • In some cases, BEB runs in families. In these rare instances, it is more obvious that BEB may be inherited. More study is required to determine the exact role genetics plays in the development of BEB.
  • Blepharospasm can occur with dystonia affecting the mouth and/or jaw (oromandibular dystonia, Meige syndrome)

What Are The Symptoms?

  • Spasms
    • BEB virtually always affects both eyes (bilateral).
    • Usually begins gradually with excessive blinking and/or eye irritation, which comes intermittently ​
    • As the condition progresses, it occurs frequently during the day​
    • As the condition progresses, the spasms may intensify so that when they occur, the patient is functionally blind​
    • The eyelids may remain forcefully closed for several hours at a time​
    • BEB may occur in association with dystonia of the lower part of the face, mouth or jaw. In these cases, BEB may be associated with jaw clenching, grimacing or tongue protrusion.
  • Spasm-related symptoms
    • In the early stages it may only occur with specific precipitating stressors, such as bright lights, fatigue, and emotional tension​
    • Concentrating on a specific task may reduce the frequency of the spasms​
    • Symptoms of BEB may be temporarily alleviated by a variety of activities including singing, laughing, yawning, and chewing.​
    • Activities that can irritate the spasms include reading, walking, watching television, exposure to bright lights, and driving​
    • Stress may also worsen symptoms.​
    • The spasms disappear in sleep, and some people find that after a good night’s sleep, the spasms don’t appear for several hours after waking.​
    • BEB may also be associated with abnormally dry eyes.​
  • Psychiatric symptoms, such as anxiety, depression, and psychosis, may be present before or at onset

How Is It Treated?

  • Treatment includes oral medications, injection therapy, and surgery​
  • Alternative treatments may include biofeedback, acupuncture, hypnosis, chiropractic, and nutritional therapy​
  • It is generally accepted that botulinum neurotoxin injections are the most effective treatment available for the reduction of symptoms, but for some patients the relief from injections is inadequate. For those patients, oral medications and surgery are options that help patients in some circumstances​
  • Oral Medications
    • trihexyphenidyl (ARTANE), benztropine (COGENTIN) (anticholinergics)
    • clonazepam (KLONOPIN), lorazepam (ATIVAN), diazepam (VALIUM)​ (benzodiazepines)
    • baclofen (LIORESAL) (GABA receptor agonist)
    • bromocriptine (PARLODEL) (dopamine receptor agonist)
    • pimozide (ORAP), haloperidol (HALDOL)​ (neuroleptics)
    • tetrabenazine (NITOMAN) (monoamine depleter)
    • levetiracetam (KEPPRA) (anticonvulsant)
    • zolpidem (AMBIEN)​ (imidazopyridine)
    • clozapine (CLOZARIL) (atypical antipsychotic)
    • cyproheptadine (PERIACTIN) (serotonin receptor agonist)
    • mexiletine (MEXITIL) (antiarrhythmic agent)
  • Surgery
    • Myectomy
      • Before the availability of botulinum neurotoxin, myectomy was essentially the only treatment option for blepharospasm. The introduction of botulinum toxin injections in 1989 ​
      • Surgical procedure to remove some of the muscles and nerves of the eyelids, is also a possible treatment option​
      • This surgery has improved symptoms in 75 to 85 percent of people with blepharospasm​
      • Persons who have stopped responding to botulinum toxin as well as those rare individuals who fail to respond at all may be eligible for myectomy​
      • The healing process following a myectomy may take up to a year. In most cases, the patients are able to keep their eyes open immediately following the operation. However, considerable swelling, hematomas (blood accumulation in lid), lymphedema (tissue fluid), and bruising may be present early in the post-operative period and prevent complete eyelid opening​
  • Alternative therapies
    • Biofeedback​
    • Acupuncture​
    • Hypnosis​
    • Chiropractic​
    • Nutritional therapy​
    • Some people find relief by applying light pressure to particular points on their face​
    • Symptoms can also be reduced by wearing dark glasses or wearing a hat with a peak​

Where Can I Learn More???

  • Check out our cornerstone on this disease here.

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