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As a patient with a rare disease, you have probably been bounced from doctor to doctor, specialist to specialist. It is natural to feel frustrated and anxious as your next appointment approaches. You can take charge of the meeting and get what you need if you go in prepared. The first step is to have your medical records organized.
You can read more about patient medical history forms here.
At minimum, you need a Short Medical History Form that lays out basic information about your medical history.
w What is your past medical history?
w What conditions are you currently under treatment for?
w What medications are you taking?
w Have you had surgeries? When? What kind?
w Do you smoke, drink, or take recreational drugs? Marijuana and recreational drugs may have an impact on symptoms. It is important to mention if you have taken them. This is not the time to worry about legal ramifications. Your doctor is not interested in that aspect. Be honest.
w Do you have, or have you had, other autoimmune diseases?
w Do you have Type 1 or Type 2 diabetes? How is it being treated? Are you in good control?
w Do you have autoimmune thyroid disease? How is it being treated?
w Have you ever been diagnosed with myasthenia gravis?
w Have any of your family members been diagnosed with diabetes, thyroid disease, polyglandular disease, myasthenia gravis, epilepsy, or other autoimmune diseases?
Make copies of all recent lab tests and imaging reports or copies of MRIs or x-rays on disk.
It helps to have notes on when you first noticed your symptoms.
w What are your symptoms?
w What areas of the body are affected by rigidity, stiffness?
w Do you have spasms?
w Do you experience startle via touch, sound, etc.?
w Do you feel anxious about going out for fear of startle and/or fall?
w Do you experience falls? How often? Did something spark them?
w Are your symptoms recent or long-standing?
w Are they gradual or sudden?
w Do you have weakness in any muscle group?
w Have you lost range of motion in any limb or head and neck?
w Do you have any twitches or jerks?
w Have you had any seizures?
w Does anything improve the symptoms?
w Do they affect your ability to sleep?
w Do they affect your ability to perform activities of daily living?
w Do they affect your ability to drive?
w Do they affect your ability to work?
w What, if anything, seems to improve your symptoms?
w What, if anything, seems to worsen your symptoms?
w Have you had any recent major stressors?
Prepare a list of questions ahead of time. For suspected or diagnosed stiff-person syndrome, you might want to ask:
1. What is likely causing my symptoms? Is it definitely SPS or could it be another differential diagnosis?
2. How are my symptoms likely to change over time? They may not know. You can refer to this website for the current understanding of the disease.
3. What kind of tests might I need? If you have not yet had an EMG or GAD antibody test, you can request them at this time.
4. What treatment do you recommend? Response to Valium (diazepam) or Xanax (alprazolam) is considered a diagnostic indicator for stiff-person syndrome.
Studies are currently being conducted with various immunotherapy drugs. Rituxin/rituximab has had mixed results. Stem-cell therapy is being explored, but the study sizes are too small, the expense too high, and the risks too serious to be considered as a first line treatment.
5. If you have other medical conditions, such as thyroid disease or diabetes, how will this treatment impact them? They may not know. Treatment medications for stiff-person syndrome do have an impact on thyroid medication and insulin. You may need to coordinate with an endocrinologist as an increase in either or both may be required. If you have other conditions, you may need to do more research on how these medications interact with your other medications. A good pharmacist should be able to help. A list of articles can be found here.
6. What is the next step? If you receive a diagnosis of stiff-person syndrome and the specialist tells you you don’t need to see them again (it has happened), ask them if they can recommend someone who is willing to help treat you. Your family physician is ill-equipped to manage this disease. If they, or your family physician, do not have a recommendation, you may have to do some research on your own. You can reference the Find A Doctor page for leads.
Stiff-person syndrome symptoms are very close to those of other rare diseases. However, it does have a specific cluster of symptoms that appear together called the Dalakas/Lorisch criteria.
1. Prodrome of stiffness and rigidity in axial muscles. The axial muscles (neck, shoulders, and paraspinal muscles) are most often involved with or without limb involvement, typically the legs. In some variants the stiffness and rigidity is restricted to the limbs or trunk only.
2. Slow progression of stiffness resulting in impairment of ambulation, the typical tin-man gait.
3. Fixed deformity of the spine in general and pronounced lordosis. This is a distinct exaggerated curvature of the lower spine.
4. Presence of superimposed episodic spasms precipitated by sudden movement, noise, or emotional upset. Startle is an important indicator. Startle is also a factor of hyperekplexia, but hyperekplexia does not have the same cluster of symptoms as SPS.
5. Normal findings on motor and sensory nerve examinations.
6. Continuous motor-unit activity on electromyelogram abolished by intravenous diazepam. The EMG is typically performed in the arms and legs only, not the paraspinals. They do not regularly test with and without diazepam. In fact, if you are already taking benzodiazepines or other GABA-ergic drugs, your test will likely show negative results.
7. Normal intellect. The patient may express anxiety and rational agoraphobia as opposed to true agoraphobia. The fear of going out is associated with the startle and fall. Depression due to loss of quality of life and the frustration of not having a diagnosis or receiving a diagnosis of an incurable disease is to be expected. That does not mean the patient has a true depressive disorder caused by a neurochemical imbalance.
8. Presence of either anti-glutamic acid decarboxylase antibodies (60-80% of patients) or anti-amphiphysin antibodies (<5%). The presence of GAD65 antibodies is highly correlated (60 to 80% depending on the small studies) in stiff-person syndrome, but there are a large percentage of cases presenting without these antibodies (20 -40%).
If you have this cluster of symptoms, but do not have GAD antibodies, then you could indeed have stiff-person syndrome. The important point is that they ruled out other differential diagnoses.
If you do not have anything resembling this cluster of symptoms, but you have positive GAD antibodies, then you should push for further answers. GAD antibodies appear in numerous autoimmune diseases as well as Type 1 diabetes and autoimmune thyroid disease. They are also circulating in 1 to 2% of the healthy population.
PREPARING FOR AN APPOINTMENT