About a year before my dad passed away, he and I were at the store about to enter the store to do some grocery shopping when comes along a lady stooped at 90 degree angle pushing a buggy full of groceries. My heart immediately sank at this site. This lady apparently had been shopping all alone.  I wonder how it was possible to live like this (bringing back memories of some of my dystonic patients further gripping my heart). Sensing my anguish, before I could say or do anything being completely paralyzed at the site of this phenomenal woman who ventured all alone despite the pain she must be have likely been enduring, my father quietly stated- “I so hate that you are sick.”

I turned and looked at him with intrigue in my eyes. “But dad that poor woman…” as I trailed off he said: “I know you are a great doctor and if you were working I bet you could help her get better.”

A lump formed in my throat thinking about this person and so many more that could use my skills as a doctor, after all I was nowhere near as disabled as this person in front of us.

Before I could get to her someone came and help her load her truck and I had to watch and see how she was going to drive. Sure enough as I though, when she climbed unto the vehicle and set down she was able to straighten up.

My dad was amazed at this. I explained to him this was a form of dystonia (abnormal sustained involuntary contraction of the muscles) called Camptocormia (a.k.a bent spine). This is a dystonic posturing linked to atrophy of the paraspinal muscles. This is posturing is known as one of the extreme postures impairments linked or associated with Parkinson’s disease (PD). Camptocormia in Parkinson’s is defined as extreme anteroflexion of the trunk which abates with recumbent position or standing up against a wall or hard surface. Thus this lady possibly had PD –dystonia at the very least. PD patients who have this tend to have early involvement of axial muscles and long duration of illness as well as tend be older of male gender with history of spondyloarthric spine increasing risk of developing camptocormia. This particular dystonia does not respond to levodopa or have very minimal response. Interestingly, the Pet scans looking at dopamine transporters of PD patients with and without Camptocormia are identical.

Although dad knew little of neurology or dystonia he had a good 6^th sense and was correct in assuming this woman’s condition was in my area of expertise. I frequently think of both that lady who I have not seen again and my dad who is now gone to be with the Lord. Yet, the resolve to understand the connection between the two movement disorders in an attempt to find relief to so many people in need has only strengthen with time.

There are two other dystonic syndromes involving the AXIAL muscles commonly seen by MDS that are frequently related to parkinsonian patients:

1. Head drop (anterocollis- cervical dystonia)
2. Pisa Syndrome- a condition in which there is sustained involuntary flexion of the body and head to one side and slight rotation of the trunk when sitting and standing. This gives the appearance of leaning tower of Pisa – hence the name! This condition also commonly seen in schizophrenia.

These two are typically related to Multisystem atrophy (MSA)! However, Pisa syndrome can be seen infrequently in PD as well.  Those that have this syndrome tend to have lower body mass index; higher disability due to longer duration of disease and more advanced disease. Subsequently, PD patients with Pisa syndrome had poorer quality of life partly due to increased falling. Severe osteoporosis and arthrosis were significantly part of the life of these patients as well. Although, anterocollis is a sin-qua- non of MSA in its early presentation but when it occurs in the late stages of PD it is invariably due to medication effect (wearing off).

Despite the fact that dystonia is the third most common movement disorder after essential tremors (ET) and PD is still not well recognized or understood; even though there have been many advances in the last several decades identifying specific genes causing dystonic syndromes.

One of the main problems in dealing with dystonia from a medical point of view is that it is both a symptom as well as a diagnosis of primary neurological disease.  This notion has always intrigued me particularly after I developed YOPD and my initial symptoms as it is common in the majority of YOPD to commence with some sort of focal dystonia. Despite the fact that I have been trying for a number of years to get the Parkinson’s foundations to work side by side the dystonia foundation to focus on the common path ways.  After a decade, I am happy to report progress by a final acknowledgement of dystonia as a presenting symptoms of PD by the MJfox foundation. Further, they are beginning to recognize a pattern of presentation which is essential in the diagnostic armamentarium of every physician (who depend on pattern recognition) but also for the PD community to be aware of the possible initial symptoms.

Keeping above in mind we also have to remember that dystonia itself is not a common /classic presenting symptom of PD. However, when it is the presenting symptoms it’s in YOPD. In YOPD, dystonia is more commonly isolated in the lower limb as it was my presenting symptom.  As a symptom in general isolated lower limb dystonia is very rare in adults. This dystonia is also referred as kinesigenic foot dystonia this is because this type of dystonia is brought on by exercise and/ or movement of the foot- typically causing toes to curl involuntarily and sometimes exaggerated hyperflexion of foot  causing much pain and discomfort.
Common trigger is putting on shoes for women particularly if attempting to put on high heels as they cause us to arch our foot even further.

Treatments: Vary depending on cause

As with any illness – the key to successful treatment is first deciding its cause- whether the dystonia in any individual is a symptom of an underlying neurological disease or a disease itself such as primary dystonia or Dopa- responsive -dystonia (DRD)?

Once you have ascertained that these syndromes are part of Parkinson’s or Parkinson’s plus disorders then we must consider their treatment.

1. Anterocollis– Commonly causes neck pain and cervical radiculopathy. Botox works wonders; adjusting PD meds; therapy, cervical collar & DBS. Must recognize and treat early before cervical damage can occur and or cause fracture of c-spine!
2. Pisa syndrome– Commonly causes back pain. Discontinue using antipsychotic drugs and usage of amantadine and other anti-cholinergics; no good treatment for those caused by neuroleptics.
3. Camptocormia-  Commonly causes back pain and lumbar/thoracic radiculopathy. Since levodopa has little or no effect we must consider alternative treatments. These include: withdrawal of causative drugs like antipsychotics or neuroleptic drugs such as Haldol; orthotic aids; Physical therapy; steroid injections; Botox injections which have proven of great value in many patients with this type of dystonia- would be my first choice after excluding triggering causes/medical causes; muscle relaxants – baclofen, dantrolene, etc.; tetrabenazine; amantadine; and surgical intervention -such as DBS- deep brain stimulation- subthalamic
4. Lower limb dystonia– start dopamine agonists; levodopa; physical therapy; foot orthotics; Botox; muscle relaxants; DBS when necessary.

In summary having one of the first 3 syndromes in the presence of PD is a sign of disabling advanced disease leading to higher comorbidities which in turn can lead to spine fractures of neck and back requiring surgery if not properly treated and managed early in its presentation. The latter two frequently result in severe falls due to loss of balance and “veering” of gait. However, presence of lower limb dystonia in a young adult could signify the onset of Parkinson’s disease. Thus, need to follow up with a neurologist/ MDS for all these types of dystonia for a better prognosis and quality of life.

Sources:

Pisa syndrome in Parkinson disease

Dolhun, R. The Michael J. Fox foundation for Parkinson’s Research. (September 2015) :”Dystonia and Parkinson’s Disease.” Practical Neurology. 14(7):43-46.