First, dystonia which falls under the umbrella of the movement disorders diseases implies an abnormal contraction of the muscles that causes involuntary twisting resulting in abnormal postures. It can be painful. Some common known dystonia are writer’s cramp-a type of dystonia that occurs only while writing affecting the muscles of the hand and forearm.
Dystonia is a symptom like a cough, or nausea. We need to know the cause. It can be a primary disease such as dopa responsive dystonia (DRD), or dystonia muscularoum deformans (also known as Openheimer’s syndrome or torsion dystonia-DYTI ).
All primary dystonias are caused by some type of genetic abnormality. Dystonia can also be part of another neurological disease; this type is known as secondary dystonia.
Secondary dystonia or acquired causes:
It can affect any muscle of the body. The dystonia can be:
Typically Parkinson’s patients experience focal or hemidystonia. In YOPD it is not uncommon to see dystonia as one of the presenting symptoms again it can be focal, hemidystonia, and occasionally segmental. Unfortunately sometimes dystonia can remain the most prominent feature for years before other motor pd symptoms to develop. But, during this time persons with YOPD should have other non-motor symptoms developing. I have seen patients treated with focal dystonia for 6 years only to see signs of PD in the 7th year. With time DRD develops pd symptoms sometimes confounding picture for those not so well versed in the field erroneously labeling Parkinson’s when in fact is primary dystonia with secondary parkinsonism. The treatment unfortunately is the same but the prognosis is quite different. One being static or mildly progressive while the other one will have a progressive neurodegenerative course (PD). DRD can be controlled with large doses of dopamine while the other initially maybe controlled but will eventually lead to dyskenesias. Independent of whether dystonia is primary or secondary’s the treatment armamentarium is essentially the same. The basic principle is finding an underlying treatable cause such can reverse the symptoms if not is back to symptomatic control. In the case of Parkinson’s is really as much an art as it is a science in being able to adjust the Parkinson’s medications. This is where open communication between a doctor and patient come in handy to pinpoint exactly if the dystonia is being caused by wearing off, end of dose, or a biphasic response!
Symptoms of dystonia:
All dystonias, as all other movement disorders, get worst during stress and fatigue!
Treatments for dystonia:
In the hands of a skilled and knowledgeable specialist all dystonias should be able to be controlled providing the person living with this condition, whether it is a symptom of something else or a syndrome itself, a good quality of life since we now have so many treatment options. However, most dystonias unless related to medication side effects or are focal in nature (except spasmodic dysphonia which require ENT specialist to do injections) will require a team approach (ancillary services, MDs, neurosurgeon, pain specialist, orthopedist, massage therapist) and a combination of therapeutic modalities to achieve the best possible outcome. These treatments should be accompanied along a life style in which sleep is given priority and methods of stress relief are integrated into everyday life to maximize benefit.
In order to properly diagnose and decide proper treatment need to be seen by a movement disorder specialist (MDS). He or she will run blood test (which may include genetic testing), imaging test (CT/MRI Brain) along with a detail neurological exam to find the cause.
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