+ What are the key components of this patient’s history and physical examination?

Relevant History:

• What is the onset, timing, location, duration, aggravating/alleviating factors, ?radiation, severity?
• Was there injury or trauma?
• Any fever, chills, vision or hearing changes, nausea, weakness, numbness, tingling, gait or balance problems, bowel/bladder changes?
• Has she had any workup or treatment so far for this problem?
• Past Medical/Surgical History?
• Family History?
• Social History?
• Functional History?
• Medications?

Relevant Physical Examination:

• Vital signs
• Inspection
• Palpation
• Range of motion of cervical spine and shoulders
• Cranial nerve examination
• Manual muscle testing, reflexes, sensation testing of bilateral upper limbs
• Special testing: cervical facet joint loading, Spurling, Babinski, Hoffman, Neer, Hawkins, Empty Can, painful arc. Other shoulder tests as directed by history and physical examination.

+ What is your differential diagnosis for this problem?

• Cervical dystonia, cervicogenic headaches, migraines, occipital neuralgia, myofascial pain, cervical facet joint dysfunction, tension headaches, shoulder arthritis, rotator cuff disease/impingement, cervical radiculopathy, intracranial pathology.

+ You are not certain on workup or treatment recommendations for her suspected condition. How would you go about providing optimal care for this patient?

• I would perform a literature search and read the primary literature regarding workup and treatment options. I seek out and read professional, published recommendations by board-certified physicians in this endeavor. Established textbooks within PM&R are another option in broadening my information search. I would ensure that this case presentation aligns with typical patients in the published literature before proceeding with workup and treatment. If I could not confidently find the answers I am searching for, I would consider referring the patient to another physician who can workup and manage her care.

+ What workup would you recommend at this point in time?

• In this neurologically intact patient with isolated positional abnormality, I would recommend no further laboratory or imaging workup at this time.

+ Define dystonia.

• Dystonia is the condition of sustained, abnormal muscle contractions that result in abnormal twisting and/or posturing.

+ Name and describe the different classic head postures documented in cervical dystonia.

• Torticollis: horizontal head rotation/turning
• Anterocollis: head/neck flexion
• Retrocollis: head/neck extension

+ Which muscles are typically involved in torticollis with head turning to the right?

• Left sternocleidomastoid.

+ How would you proceed with treatment?

• I would recommend chemodenervation with botulinum toxin as first-line therapy for cervical dystonia. This would be performed with EMG and/or ultrasound guidance for maximum accuracy with minimized risk of distant toxin spread. I would educate and counsel the patient on the diagnosis and treatment plan including all risks and benefits of neurotoxin treatment. I would ensure patient acts autonomously in making her decision.

+ Challenge Question

• What is the mechanism of action of botulinum toxin and expected onset and duration of effect?

+ Challenge Answer

• Botulinum toxin inhibits the release of acetylcholine from synaptic terminals of motor neurons within muscles. It does so by inhibiting syntaxin, synaptobrevin, and SNAP-25 proteins in particular. Without the release of acetylcholine, motor neurons cannot stimulate muscle fibers to contract. Botulinum toxin classically begins to take effect within 3 days, with peak effect occurring approximately 3-6 weeks after injection, and total duration of effect of approximately 3 months.

+ What are the risks and potential side effects of botulinum toxin injections, and how can these be minimized?

• It is possible that the neurotoxin can enter a blood vessel and be circulated around the body. If this occurs, the primary concerning side effects are dysphagia, respiratory suppression, and weakness. The risk of side effects is significantly minimized by using EMG guidance, ultrasound guidance, or both in conjunction. Other risks include infection, bleeding, or pain at the injection site.

+ If the patient wished to not proceed with chemodenervation due to the risk of side effects, what would your recommendations be?

• I would ask what her understanding is of her diagnosis and purpose of neurotoxin in her case. I would offer to explain or answer any questions she may have regarding any of this. If she still wished to not proceed, she might consider physical therapy, though I would counsel she will likely not improve as well as she might with neurotoxin injections, if at all, and that the evidence indicates neurotoxin injections are the most appropriate first-line therapy for cervical dystonia.

+ Your response:

• While I have enjoyed caring for you and am so glad that your condition has improved, affording you a better quality of life, it’s not appropriate to make such statements in a proper doctor-patient relationship, as trust and barriers can easily become impaired. I unfortunately will no longer be able to provide your care beyond this visit. I sincerely appreciate your understanding of this situation. I will be available for urgent/emergent care as needed, and will place a referral to another capable physician who can manage your care. What questions do you have for me?

• Note: This is a profoundly uncomfortable situation that can occur in real life. You do not have to subject yourself to profoundly uncomfortable or inappropriate situations!