Dystonia

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Dystonia is a syndrome of neurological movement disorder in which continuous or repetitive muscle contractions produce repetitive and repetitive motions or abnormal posture. The movement can resemble tremor. Dystonia is often intensified or aggravated by physical activity, and symptoms can develop into adjacent muscles.

This disorder may be hereditary or caused by other factors such as birth or other physical trauma, infection, poisoning (eg lead poisoning) or reactions to pharmaceutical drugs, especially neuroleptics. Treatment should be highly tailored to individual needs and may include oral medication, chemodenervation injections of botulinum neurotoxin, physical therapy, or other supportive therapies, and surgical procedures such as deep brain stimulation.

Video Dystonia

Classification

There are several types of dystonia, and many diseases and conditions can cause dystonia.

Dystonia is classified by

Clinical characteristics such as age of onset, body distribution, symptom trait, and related features such as additional movement disorders or neurological symptoms, and
Causes (which include changes or damage to the nervous system and inheritance).

Doctors use this classification to guide diagnosis and treatment.

Type

General
Fokal
Segmental
Psychogenic
Acute dystonic reaction
Vegetatif-vascular

Generalized dystonias

For example, dystonia musculorum deformans (Oppenhiem, Flatau-Sterling syndrome):

History and normal birth milestones
Autosomal domains
Children's Onset
Start in the lower limb and spread over

Also known as dystonic torque or idiopathic dystonia torque (the old terminology "dystonia musculorum deformans").

Focal dystonias

This most common dystonia is usually classified as follows:

The combination of blepharospasmodic contractions and oromandibular dystonia is called cranial dystonia or Meige syndrome.

Distonia segmental

Segmental dystonia affects two adjacent parts of the body:

Hemidystonia affects the arms and legs on one side of the body.
Multifocal dystonia affects many parts of the body.
General dystonia affects most of the body, often involving the legs and back.

Genetic/major

There is a group called myoclonic dystonia in which some cases are hereditary and have been associated with missense mutations in dopamine-D2 receptors. Some of these cases have responded to alcohol well.

Other genes that have been associated with dystonia include CIZ1, GNAL, ATP1A3, and PRRT2. Other reports have linked THAP1 and SLC20A2 to dystonia.

Maps Dystonia

Signs and symptoms

Symptoms vary according to the type of dystonia involved. In most cases, dystonia tends to lead to abnormal posture, especially in motion. Many patients experience continuous pain, cramps, and muscle spasms non-stop due to unconscious muscle movement. Other motor symptoms may include lip smacking.

Early symptoms may include loss of precision muscle coordination (sometimes first manifested in handwriting downhill, frequent small cuts to hand, and dropping items), painful cramps with ongoing use, and shaking. Significant muscle and cramp pain can occur due to very small exertion such as holding a book and turning the page. It may be difficult to find a comfortable position for the arms and legs with even small exertion associated with holding the arms crossed causing significant pain similar to restless legs syndrome. Affected people may feel trembling in the diaphragm while breathing, or the need to lay hands in a pocket, under the feet while sitting or under a pillow while sleeping to keep them calm and relieve pain. Trembling in the jaw can be felt and heard while lying down, and constant movement to avoid pain can lead to grinding and declining teeth, or symptoms similar to temporomandibular joint disorders. The sound may often crack or become rough, triggering frequent throat cleansing. Swallowing can be difficult and accompanied by painful cramps.

Electrical sensors (EMG) incorporated into affected muscle groups, while painful, can provide a definitive diagnosis by showing the pulsed nerve signals that are sent to the muscles even when they are resting. The brain appears to mark the parts of the fibers in the affected muscle groups at a firing rate of about 10 Hz causing them to pulsate, vibrate and deform. When called upon to do deliberate activity, the muscles are fatigued very quickly and some parts of the muscle group do not respond (causing weakness) while the other part responds too much or becomes stiff (causing the micro-tear under the load). Symptoms worsen significantly with use, especially in cases of focal dystonia, and "mirror effects" are often observed in other body parts: The use of the right hand can cause pain and cramps in the hand as well as on the other and unused legs. Stress, anxiety, lack of sleep, ongoing use and cold temperatures can exacerbate symptoms.

Direct symptoms can be accompanied by secondary effects of continuous muscle and brain activity, including disturbed sleep patterns, fatigue, mood swings, mental stress, difficulty concentrating, blurred vision, digestive problems, and short temperament. People with dystonia may also experience depression and find great difficulty in adapting their activities and livelihoods to developing disabilities. Side effects from medications and medications can also present challenges in normal activities.

In some cases, symptoms may develop and then persist for years, or stop fully developing. Progression may be delayed due to lifestyle or adaptive changes, while persistent forced use can make the symptoms develop faster. In others, symptoms can develop into total disability, making some form of riskier treatment worthy of consideration. In some cases with patients who already have dystonia, subsequent traumatic injury or general anesthetic effects during unrelated surgery may cause symptoms to develop rapidly.

An accurate diagnosis may be difficult because of the way the disorder manifests itself. Patients can be diagnosed to have similar and possibly related disorders including Parkinson's disease, essential tremor, carpal tunnel syndrome, TMD, Tourette syndrome, impaired conversion or other neuromuscular movement disorders. It has been found that the prevalence of dystonia is high in individuals with Huntington's disease, where the most common clinical presentation is internal shoulder rotation, sustained fist, knee flexion, and foot inversion. Risk factors for increased dystonia in patients with Huntington's disease include long duration of the disease and use of antidopaminergic drugs.

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Cause

Primary dystonia is suspected when dystonia is the only sign and there are no identifiable causes or structural abnormalities in the central nervous system. The researchers suspect it is caused by central nervous system pathology, probably originating in parts of the brain associated with motor function - such as basal ganglia and GABA (gamma-aminobutyric acid) that produce Purkinje neurons. The exact cause of primary dystonia is unknown. In many cases it may involve some genetic predisposition to the disorder in combination with environmental conditions.

Secondary dystonia refers to dystonia caused by several identifiable causes, such as head injury, drug side effects (eg tardif dystonia), or neurological disease (eg Wilson disease).

Meningitis and encephalitis caused by viral, bacterial, and fungal infections of the brain have been associated with dystonia. The main mechanism is inflammation of the blood vessels, causing a restriction of blood flow to the basal ganglia. Other mechanisms include direct nerve injury by organisms or toxins, or autoimmune mechanisms.

Environmental factors and related tasks allegedly triggered the development of focal dystonia due to appear disproportionately in individuals performing high precision hand movements such as musicians, engineers, architects, and artists. Chlorpromazine can also cause dystonia, which is often mistaken for seizures. Neuroleptic drugs often cause dystonia, including oculogyric crises.

The inability of the sodium-potassium pump can be a factor in some dystonia. The Na - K
The pump has been shown to control and set mode of intrinsic activity of Purkinje neurons of cerebellum. This suggests that the pump may not only be homeostasis, a housekeeping molecule for ionic gradients; but can be a computing element in the cerebellum and brain. Indeed, the block ouabain Na - K
pump in the brain little of the live mouse results in it showing ataxia and dystonia. Ataxia was observed for lower ouabain concentrations, dystonia was observed at higher ouabain concentrations. A mutation in Na - K
pump (ATP1A3 gen) can lead to rapid onset of dystonia parkinsonism. The parkinsonism aspect of this disease may be due to malfunction of Na > - K pump in basal ganglia; aspect of dystonia may be caused by impaired function Na - K pumps in the cerebellum (which act to damage its input to the basal ganglia) may be in Purkinje neurons.

The cerebellar problems that cause dystonia are explained by Filip et al. 2013: "Although dystonia has traditionally been thought of as basal ganglia dysfunction, recent provocative evidence has emerged about cerebellar involvement in the pathophysiology of this mysterious disease.He has suggested that the cerebellum plays an important role in the etiology of dystonia, from neuroanatomical studies of complex tissues which indicates that the cerebellum is connected to various other central nervous system structures involved in motion control for animal models indicating that the signs of dystonia are due to cerebellar dysfunction and are completely lost after the cerebellum, and finally clinical observation in secondary dystonic patients with various type of cerebellar lesions, it is proposed that dystonia is a large-scale dysfunction, involving not only the cortico-basal ganglia-thalamo-cortical pathway, but also the cortico-ponto-cerebello-thalamo-cortical loop, the absence of a traditional "cerebellar" sign in most patients dystonia, there are more a subtle indication of cerebellar dysfunction. It is clear that as long as the role of cerebellum in the genesis of dystonia remains undetectable, it will be difficult to significantly improve standard treatment of current dystonia or to provide curative treatment. "

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Treatment

Reducing the type of movement that triggers or aggravates the symptoms of distonics provides relief, such as reducing stress, resting, light exercise, and relaxation techniques. Various treatments focus on sedating brain function or blocking nerve communication with muscle through drugs, neuro-suppression, or denervation. All current treatments have negative side effects and risks. An antagoniste geste is a physical movement or position (like touching a person's chin) which temporarily interferes with dystonia, also known as a sensory trick. Patients may be aware of the presence of antagoniste geste which provides some relief. Therapy for dystonia can involve prosthetic that passively simulates stimulation.

Physical intervention

While studies in the field of effectiveness of physical therapy interventions for dystonia are still weak, there is reason to believe that rehabilitation can be beneficial for dystonia patients. Physical therapy can be used to manage changes in balance, mobility and overall functioning that occur as a result of the disorder. Various treatment strategies can be used to meet the unique needs of each individual. Potential treatment interventions include splinting, therapeutic exercise, manual stretching, soft tissue and joint mobilization, postural and bracing exercises, neuromuscular electrical stimulation, locally induced motion therapy, activity and environmental modification, and gait training.

A patient with dystonia may have significant challenges in daily life activities (ADL), an area that is particularly suitable for treatment by occupational therapy (OT). An occupational therapist (OT) may perform the necessary upper extremity splinting, provide movement inhibition techniques, co-ordinate fine motor coordination, provide aids, or teach alternative methods of activity performance to achieve patient goals for bathing, dressing, toilet cleaning, valuable. activities.

Recent research has been further investigated into the role of physiotherapy in the treatment of dystonia. A new study shows that reducing psychological stress, in conjunction with exercise, is useful for reducing trunkal dystonia in patients with Parkinson's disease. Other studies emphasized progressive relaxation, isometric muscle endurance, dynamic strength, coordination, balance, and body perception, saw a significant improvement in patient quality of life after 4 weeks.

Because the root of the problem is neurological, doctors have explored the sensorimotor retraining activity to allow the brain to "recover" itself and eliminate dystonic motion. The work of several physicians such as Nancy Byl and Joaquin Farias has shown that sensorimotor retraining activity and proprioceptive stimulation can induce neuroplasticity, allowing patients to recover substantial functionalities lost due to Cervical Dystonia, hand dystonia, blepharospasm, oromandibular dystonia, dysphonia and dystonia musicians.

Some focal dystonia has been shown to be treatable through retraining of movements in Taubman's approach, particularly in the case of musicians. However, other focal dystonia may not respond and may even be aggravated by this treatment.

Due to the rare and varied nature of dystonia, studies investigating the effectiveness of these treatments are limited. There is no gold standard for physiotherapy rehabilitation. To date, focal cervical dystonia has received research attention; However, the research design is not well controlled and limited to small sample sizes.

Medication

Different drugs are attempted in an attempt to find an effective combination for a particular person. Not everyone responds well to the same drug. Drugs that have positive results in some include: diphenhydramine, benzatropine and atropine. anti-Parkinsons agents (such as ropinirole and bromocriptine), and muscle relaxants (such as diazepam).

Anticholinergic

Drugs such as anticholinergics (benztropin), which act as inhibitors of acetylcholine neurotransmitters, may provide some relief. In the case of acute dystonic reactions, diphenhydramine is sometimes used (although this drug is known as an antihistamine, in this context it is used primarily for anticholinergic roles). See also Procyclidine.

Baclofen

The baclofen pump has been used to treat patients of all ages that show muscle spasticity along with dystonia. The pump provides baclofen through the catheter to thecal space around the spinal cord. The pump itself is placed in the stomach. It can be recharged periodically with access through the skin. Baclofen can also be taken in tablet form

Injection of Botulin toxin

Botulinum toxin injection to the affected muscles has proven quite successful in providing some relief for about 3-6 months, depending on the type of dystonia. Botox or Dysport injections have the advantage of ready availability (the same form used for cosmetic surgery) and the effect is not permanent. There is a risk of temporary paralysis of injected muscle or leaking of toxins into adjacent muscle groups, causing weakness or paralysis in it. The injections should be repeated, because the effect is reduced and about 15% of recipients develop resistance to toxins. There are Type A and Type B toxins approved for the treatment of dystonia; often, those who develop resistance to Type A may be able to use Type B.

Muscle relaxant

Clonazepam, an anti-seizure drug, is also sometimes prescribed. However, for the most part, the effect is limited and side effects such as mental confusion, sedation, mood swings, and short-term memory loss occur.

Parkinsonian medicine

Dopamine Agonists: One type of dystonia, dystamine-dystamine responsive, can be completely treated with regular doses of L-DOPA in a form like Sinemet (carbidopa/levodopa). Although this does not remove the condition, it reduces symptoms most of the time. (Conversely, dopamine antagonists can sometimes cause dystonia.)

Ketogenic Diet

A ketogenic diet consisting of 70% fat (focusing on medium chain triglycerides and unsaturated fats), 20% protein and 10% carbohydrates (any sugar) have shown a strong promise as a treatment for Dystonia. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270868/]

Surgery

Surgery, such as selected muscle denervation, may also provide some relief; However, nerve destruction in the limbs or brain is not reversible and should be considered only in the most extreme cases. Recently, deep brain stimulation procedures (DBS) have been shown to be successful in a number of cases of severe general dystonia. DBS as a treatment for drug-refractory dystonia, on the other hand, may increase the risk of suicide in patients. However, patient reference data without DBS therapy is lacking.

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History

Bernardino Ramazzini of Italy provided one of the first descriptions of a dystonia-specific task in 1713 in a book of occupational diseases, The Morbis Artificum. In the second chapter of the Supplementum of this book, Ramazzini notes that "the Lawyer and the Notary" can develop "incessant hand movements, always in the same direction... a continuous and almost tonic strain on the muscle... that produces power failure in the right hand. "The report from the British Civil Service also contains a preliminary description of the author's seizures. In 1864, Solly coined the term "scrivener's palsy" for this suffering. These historical reports usually associate the etiology of motor abnormalities with excessive use. Subsequently, dystonia was reported in detail in 1911, when Hermann Oppenheim, Edward Flatau and Wladyslaw Sterling described some of the Jewish children who were exposed to the syndrome who were retrospectively thought to represent DYT1 DYT1 family cases. Decades later, in 1975, the first international conference in dystonia was held in New York. Then it is known that, in addition to the common forms of weight, the dystonic phenotype also includes focal and segmental cases that are progressively poor with onset in adulthood, such as blepharospasm, torticollis and writer's cramps. These forms were previously considered independent disorders and were primarily classified among neuroses. The modern definition of dystonia was said a few years later, in 1984. Over the following years it became clear that dystonia syndrome was numerous and varied, new terminology descriptors (eg, dystonia plus, heredodegenerative dystonias, etc.) and additional classification schemes were introduced. The clinical complexity of dystonia is then fully recognized.

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References