A spasm is a sudden involuntary contraction of a muscle , a group of muscles, or a hollow organ , such as the bladder.
31-400: A spasmodic muscle contraction may be caused by many medical conditions, including dystonia . Most commonly, it is a muscle cramp which is accompanied by a sudden burst of pain. A muscle cramp is usually harmless and ceases after a few minutes. It is typically caused by ion imbalance or muscle overload . There are other causes of involuntary muscle contractions, and some of these may cause
62-404: A health problem . A series of spasms, or permanent spasms, is referred to as a "spasmism". Various kinds of involuntary muscle activity may be referred to as a "spasm". A spasm may be a muscle contraction caused by abnormal nerve stimulation or by abnormal activity of the muscle itself. A spasm may lead to muscle strains or tears in tendons and ligaments if the force of the spasm exceeds
93-403: A catheter to the thecal space surrounding the spinal cord. The pump itself is placed in the abdomen. It can be refilled periodically by access through the skin. Baclofen can also be taken in tablet form Botulinum toxin injections into affected muscles have proved quite successful in providing some relief for around 3–6 months, depending on the kind of dystonia. Botox or Dysport injections have
124-529: A number of cases of severe generalised dystonia. DBS as treatment for medication-refractory dystonia, on the other hand, may increase the risk of suicide in patients. However, reference data of patients without DBS therapy are lacking. The Italian Bernardino Ramazzini provided one of the first descriptions of task-specific dystonia in 1713 in a book of occupational diseases, The Morbis Artificum. In chapter II of this book's Supplementum, Ramazzini noted that "Scribes and Notaries" may develop "incessant movement of
155-482: A result of the disorder. A variety of treatment strategies can be employed to address the unique needs of each individual. Potential treatment interventions include splinting, therapeutic exercise, manual stretching , soft tissue and joint mobilization , postural training and bracing, neuromuscular electrical stimulation , constraint-induced movement therapy , activity and environmental modification, and gait training . Recent research has investigated further into
186-612: A syndrome that was retrospectively considered to represent familial cases of DYT1 dystonia. Some decades later, in 1975, the first international conference on dystonia was held in New York. It was then recognized that, in addition to severe generalized forms, the dystonia phenotype also encompasses poorly-progressive focal and segmental cases with onset in adulthood, such as blepharospasm, torticollis and writer's cramp. These forms were previously considered independent disorders and were mainly classified among neuroses. A modern definition of dystonia
217-470: A young child. However, as the researchers noted, their results could have been corollary in nature and not due to the diet itself, though future research is warranted. Surgery, such as the denervation of selected muscles, may also provide some relief; however, the destruction of nerves in the limbs or brain is not reversible and should be considered only in the most extreme cases. Recently, the procedure of deep brain stimulation (DBS) has proven successful in
248-642: Is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures. The movements may resemble a tremor . Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into adjacent muscles. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma , infection , poisoning (e.g., lead poisoning ) or reaction to pharmaceutical drugs , particularly neuroleptics , or stress. Treatment must be highly customized to
279-749: Is a protein that in humans is encoded by the PRRT2 gene . This gene encodes a transmembrane protein containing a proline -rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with a number of movement disorders, most commonly paroxysmal kinesigenic dyskinesia where approximately 1/3 of cases will harbor mutations in PRRT2 . It has also been associated with episodic ataxias , and in particular in combination with various types of epilepsy. Mutations in PRRT2 lead also to hemiplegic migraine. This article incorporates text from
310-515: Is a Type A and a Type B toxin approved for treatment of dystonia; often, those that develop resistance to Type A may be able to use Type B. Clonazepam , a benzodiazepine , is also sometimes prescribed. However, for most, their effects are limited and side-effects like mental confusion, sedation, mood swings, and short-term memory loss occur. One complex case study found that a ketogenic type diet may have been helpful in reducing symptoms associated with alternating hemiplegia of childhood (AHC) of
341-507: Is also known as a sensory trick . Patients may be aware of the presence of a geste antagoniste that provides some relief. Therapy for dystonia can involve prosthetics that passively simulate the stimulation. While research in the area of effectiveness of physical therapy intervention for dystonia remains weak, there is reason to believe that rehabilitation can benefit dystonia patients. Physical therapy can be utilized to manage changes in balance, mobility and overall function that occur as
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#1733086150812372-461: Is called cranial dystonia or Meige's syndrome . There is a group called myoclonic dystonia where some cases are hereditary and have been associated with a missense mutation in the dopamine-D2 receptor . Some of these cases have responded well to alcohol. Other genes that have been associated with dystonia include CIZ1 , GNAL , ATP1A3 , and PRRT2 . Another report has linked THAP1 and SLC20A2 to dystonia. Symptoms vary according to
403-435: Is much more serious and is permanent unless treated. In this case, the hypertonic muscle tone is excessive, and the muscles are unable to relax. A subtype of spasm is colic . This is an episodic pain caused by spasm of smooth muscle in a particular organ (e.g., the bile duct ). A characteristic of colic is the sensation of having to move about, and the pain may induce nausea or vomiting . Dystonia Dystonia
434-466: Is proposed that dystonia is a large-scale dysfunction, involving not only cortico-basal ganglia-thalamo-cortical pathways , but the cortico-ponto-cerebello-thalamo-cortical loop as well. Even in the absence of traditional "cerebellar signs" in most dystonia patients, there are more subtle indications of cerebellar dysfunction. It is clear that as long as the cerebellum's role in dystonia genesis remains unexamined, it will be difficult to significantly improve
465-420: Is unknown. In many cases it may involve some genetic predisposition towards the disorder combined with environmental conditions. 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 restriction of blood flow to the basal ganglia. Other mechanisms include direct nerve injury by
496-487: The basal ganglia ; the dystonia aspect may be attributable to malfunctioning Na - K pumps in the cerebellum (that act to corrupt its input to the basal ganglia) possibly in Purkinje neurons . Cerebellum issues causing dystonia is described by Filip et al. 2013: "Although dystonia has traditionally been regarded as a basal ganglia dysfunction, recent provocative evidence has emerged of cerebellar involvement in
527-556: The cerebellum and the brain . Indeed, an ouabain block of Na - K pumps in the cerebellum of a live mouse results in it displaying ataxia and dystonia. Ataxia is observed for lower ouabain concentrations, dystonia is observed at higher ouabain concentrations. A mutation in the Na - K pump (ATP1A3 gene ) can cause rapid onset dystonia parkinsonism. The parkinsonism aspect of this disease may be attributable to malfunctioning Na - K pumps in
558-403: The advantage of ready availability (the same form is used for cosmetic surgery) and the effects are not permanent. There is a risk of temporary paralysis of the muscles being injected or the leaking of the toxin into adjacent muscle groups, causing weakness or paralysis in them. The injections must be repeated, as the effects wear off and around 15% of recipients develop immunity to the toxin. There
589-440: The current standards of dystonia treatment or to provide curative treatment." Various treatments focus on sedating brain functions or blocking nerve communications with the muscles via drugs, neuro-suppression, or selective denervation surgery. Almost all treatments have negative side-effects and risks. A geste antagoniste is a physical gesture or position (such as touching one's chin ) that temporarily interrupts dystonia, it
620-465: The dystonia is the only sign and there is no identifiable cause or structural abnormality in the central nervous system. Researchers suspect it is caused by a pathology of the central nervous system , likely originating in those parts of the brain concerned with motor function—such as the basal ganglia and the GABA ( gamma-aminobutyric acid ) producing Purkinje neurons . The precise cause of primary dystonia
651-633: The hand, always in the same direction … the continuous and almost tonic strain on the muscles... that results in failure of power in the right hand". A report from the British Civil Service also contained an early description of writer's cramp. In 1864, Solly coined the term "scrivener's palsy" for this condition. These historical reports usually attributed the etiology of the motor abnormalities to overuse. Then, dystonia were reported in detail in 1911, when Hermann Oppenheim , Edward Flatau and Wladyslaw Sterling described some Jewish children affected by
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#1733086150812682-715: The kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing, in particular on movement. Many individuals with the condition have continuous pain, cramping, and relentless muscle spasms due to involuntary muscle movements. Other motor symptoms are possible including lip smacking. An accurate diagnosis may be difficult because of the way the disorder manifests itself. Affected individuals may be diagnosed as having similar and perhaps related disorders including Parkinson's disease , essential tremor , carpal tunnel syndrome , temporomandibular joint disorder , Tourette's syndrome , conversion disorder or other neuromuscular movement disorders. It has been found that
713-765: The needs of the individual and may include oral medications, chemodenervation botulinum neurotoxin injections, physical therapy, or other supportive therapies, and surgical procedures such as deep brain stimulation . There are multiple types of dystonia, and many diseases and conditions may cause dystonia. Dystonia is classified by: Physicians use these classifications to guide diagnosis and treatment. For example, dystonia musculorum deformans (Oppenheim, Flatau-Sterling syndrome): Also known as torsion dystonia or idiopathic torsion dystonia (old terminology "dystonia musculorum deformans"). These most common dystonias are typically classified as follows: The combination of blepharospasmodic contractions and oromandibular dystonia
744-412: The organism or a toxin, or autoimmune mechanisms. Malfunction of the sodium-potassium pump may be a factor in some dystonias. The Na - K pump has been shown to control and set the intrinsic activity mode of cerebellar Purkinje neurons . This suggests that the pump might not simply be a homeostatic, "housekeeping" molecule for ionic gradients; but could be a computational element in
775-558: The pathophysiology of this enigmatic disease. It has been suggested that the cerebellum plays an important role in dystonia etiology, from neuroanatomical research of complex networks showing that the cerebellum is connected to a wide range of other central nervous system structures involved in movement control to animal models indicating that signs of dystonia are due to cerebellum dysfunction and completely disappear after cerebellectomy, and finally to clinical observations in secondary dystonia patients with various types of cerebellar lesions. It
806-404: The prevalence of dystonia is high in individuals with Huntington's disease , where the most common clinical presentations are internal shoulder rotation, sustained fist clenching, knee flexion, and foot inversion. Risk factors for increased dystonia in patients with Huntington's disease include long disease duration and use of antidopaminergic medication. Primary dystonia is suspected when
837-452: The role of physiotherapy in the treatment of dystonia. A recent study showed that reducing psychological stress, in conjunction with exercise, is beneficial for reducing truncal dystonia in patients with Parkinson's disease . Another study emphasized progressive relaxation, isometric muscle endurance, dynamic strength, coordination, balance, and body perception, seeing significant improvements to patients' quality of life after 4 weeks. Since
868-466: The root of the problem is neurological, doctors have explored sensorimotor retraining activities to enable the brain to "rewire" itself and eliminate dystonic movements. The work of several doctors such as Nancy Byl and Joaquin Farias has shown that sensorimotor retraining activities and proprioceptive stimulation can induce neuroplasticity , making it possible for patients to recover substantial function that
899-412: The tensile strength of the underlying connective tissue. This can occur with a particularly strong spasm or with weakened connective tissue. A hypertonic muscle spasm is a condition of chronic, excessive muscle tone (i.e., tension in a resting muscle). This is the amount of contraction that remains when a muscle is not working. A true hypertonic spasm is caused by malfunctioning feedback nerves. This
930-617: Was lost due to Cervical Dystonia, hand dystonia, blepharospasm, oromandibular dystonia, dysphonia and musicians' dystonia. Due to the rare and variable nature of dystonia, research investigating the effectiveness of these treatments is limited. There is no gold standard for physiotherapy rehabilitation. To date, focal cervical dystonia has received the most research attention; however, study designs are poorly controlled and limited to small sample sizes. A baclofen pump has been used to treat patients of all ages exhibiting muscle spasticity along with dystonia. The pump delivers baclofen via
961-654: Was worded some years later, in 1984. During the following years it became evident that dystonia syndromes are numerous and diversified, new terminological descriptors (e.g., dystonia plus, heredodegenerative dystonias, etc.) and additional classification schemes were introduced. The clinical complexity of dystonia was then fully recognized. Creutzfeldt–Jakob disease PRRT2 112476 69017 ENSG00000167371 ENSMUSG00000045114 Q7Z6L0 E9PUL5 NM_001256442 NM_001256443 NM_145239 NM_001102563 NP_001243371 NP_001243372 NP_660282 NP_001096033 Proline-rich transmembrane protein 2