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Dystonia
Dystonia is a neurology, neurological Hyperkinesia, hyperkinetic Movement disorders, 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 Heredity, hereditary or caused by other factors such as birth trauma (physical), birth-related or other Injury, physical trauma, infection, poisoning (e.g., lead poisoning) or reaction to Medication, pharmaceutical drugs, particularly Antipsychotic, neuroleptics, or stress. Treatment must be highly customized to the needs of the individual and may include oral medications, chemodenervation Botulinum toxin, botulinum neurotoxin injections, physical therapy, or other supportive therapies, and surgical procedures such as deep brain stimulation. Classification The ...
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Spasmodic Torticollis
Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to involuntarily turn to the left, right, upwards, and/or downwards. The condition is also referred to as "cervical dystonia". Both Anatomical_terms_of_motion#Abduction_and_adduction, agonist and antagonist muscles contract simultaneously during dystonic movement. Causes of the disorder are predominantly idiopathic. A small number of patients develop the disorder as a result of another disorder or disease. Most patients first experience symptoms midlife. The most common treatment for spasmodic torticollis is the use of botulinum toxin type A. Signs and symptoms Initial symptoms of spasmodic torticollis are usually mild. Some feel an invisible tremor of their head for a few months at onset. Then the head may turn, pull or tilt in jerky movements, or sustain a prolonged position involuntarily. Over time, the involuntary spasm of the neck muscles will increase in frequency and strengt ...
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Deep Brain Stimulation
Deep brain stimulation (DBS) is a type of neurostimulation therapy in which an implantable pulse generator is stereotactic surgery, surgically implanted subcutaneous tissue, below the skin of the chest and connected by Lead (electronics), leads to the brain to deliver controlled electrical charge, electrical impulses. These charges therapeutically disrupt and promote dysfunctional nervous system circuits bidirectionally in both ante- and retrograde signaling, retrograde directions. Though first developed for Parkinsonian tremor, the technology has since been adapted to a wide variety of chronic neurologic disorders. The usage of electrical stimulation to treat neurologic disorders dates back thousands of years to ancient Greece and Early Dynastic Period (Egypt), dynastic Egypt. The distinguishing feature of DBS, however, is that by taking advantage of the portability of lithium-ion battery technology, it is able to be used long term without the patient having to be Electrical wir ...
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Hyperkinesia
Hyperkinesia refers to an increase in muscular activity that can result in excessive abnormal movements, excessive normal movements, or a combination of both. Hyperkinesia is a state of excessive restlessness which is featured in a large variety of disorders that affect the ability to control motor movement, such as Huntington's disease. It is the opposite of hypokinesia, which refers to decreased bodily movement, as commonly manifested in Parkinson's disease. Many hyperkinetic movements are the result of improper regulation of the basal ganglia– thalamocortical circuitry. Overactivity of a direct pathway combined with decreased activity of indirect pathway results in activation of thalamic neurons and excitation of cortical neurons, resulting in increased motor output. Often, hyperkinesia is paired with hypotonia, a decrease in muscle tone. Many hyperkinetic disorders are psychological in nature and are typically prominent in childhood. Depending on the specific type of hyper ...
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Torsion Dystonia
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a leg that continue to progress throughout the rest of the body. It takes roughly 5 years for the symptoms to completely progress to a debilitating state. Causes The disease is caused by a genetic disorder which results in a defect in a protein called Torsin A. A mutation in the DYT1 gene causes the loss of an amino acid, glutamic acid, in the Torsin A protein. Torsin A is an evolutionarily conserved AAA+ ATPase. The defective protein disrupts communication in neurons that control muscle movement and muscle control. This mutation is most usually inherited from a parent but can occur spontaneously. The disease is caused by a dominant ...
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Anismus
Anismus or dyssynergic defecation is the failure of normal relaxation of pelvic floor muscles during attempted defecation. It can occur in both children and adults, and in both men and women (although it is more common in women). It can be caused by physical defects or it can occur for other reasons or unknown reasons. Anismus that has a behavioral cause could be viewed as having similarities with parcopresis, or psychogenic fecal retention. Symptoms include tenesmus (the sensation of incomplete emptying of the rectum after defecation has occurred) and constipation. Retention of stool may result in fecal loading (retention of a mass of stool of any consistency) or fecal impaction (retention of a mass of hard stool). This mass may stretch the walls of the rectum and colon, causing megarectum and/or megacolon, respectively. Liquid stool may leak around a fecal impaction, possibly causing degrees of liquid fecal incontinence. This is usually termed encopresis or soiling in child ...
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Torticollis
Torticollis, also known as wry neck, is an extremely painful, dystonic condition defined by an abnormal, asymmetrical head or neck position, which may be due to a variety of causes. The term ''torticollis'' is derived . The most common case has no obvious cause, and the pain and difficulty in turning the head usually goes away after a few days, even without treatment in adults. Signs and symptoms Torticollis is a fixed or dynamic tilt, rotation, with flexion or extension of the head and/or neck. The type of torticollis can be described depending on the positions of the head and neck. * laterocollis: the head is tipped toward the shoulder * rotational torticollis: the head rotates along the longitudinal axis towards the shoulder * anterocollis: forward flexion of the head and neck and brings the chin towards the chest * retrocollis: hyperextension of head and neck backward bringing the back of the head towards the back A combination of these movements may often be observed. To ...
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DYT1
Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the ''TOR1A'' gene (also known as DQ2 or DYT1). TorA localizes to the endoplasmic reticulum The endoplasmic reticulum (ER) is a part of a transportation system of the eukaryote, eukaryotic cell, and has many other important functions such as protein folding. The word endoplasmic means "within the cytoplasm", and reticulum is Latin for ... and contiguous perinuclear space, where its ATPase activity is activated by either LULL1 or LAP1, respectively. Function The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family. Clinical significance Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. References Further reading * * * * * * * * * * * * * * * * * * External links GeneReview/NIH/UW entry on Early-Onset Primary Dystonia
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Movement Disorders
Movement disorders are clinical syndromes with either an excess of movement or a paucity of voluntary and involuntary movements, unrelated to weakness or spasticity. Movement disorders present with extrapyramidal symptoms and are caused by basal ganglia disease. Movement disorders are conventionally divided into two major categories- '' hyperkinetic'' and '' hypokinetic''. Hyperkinetic movement disorders refer to dyskinesia, or excessive, often repetitive, involuntary movements that intrude upon the normal flow of motor activity. Hypokinetic movement disorders fall into one of four subcategories: akinesia (lack of movement), hypokinesia (reduced amplitude of movements), bradykinesia (slow movement), and rigidity. In primary movement disorders, the abnormal movement is the primary manifestation of the disorder. In secondary movement disorders, the abnormal movement is a manifestation of another systemic or neurological disorder. Treatment depends upon the underlying disorder. ...
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Vegetative-vascular Dystonia
Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This condition may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic. A number of conditions can feature dysautonomia, such as Parkinson's disease, multiple system atrophy, dementia with Lewy bodies, Ehlers–Danlos syndromes, autoimmune autonomic ganglionopathy and autonomic neuropathy, HIV/AIDS, mitochondrial cytopathy, pure autonomic failure, autism, and postural orthostatic tachycardia syndrome. Diagnosis is made by functional testing of the ANS, focusing on the affected organ system. Investigations may be performed to identify underlying disease processes that may have led to the development of symptoms or autonomic neuropathy. Symptomatic treatment is available for many symptoms associated with dysautono ...
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Antipsychotic
Antipsychotics, previously known as neuroleptics and major tranquilizers, are a class of Psychiatric medication, psychotropic medication primarily used to manage psychosis (including delusions, hallucinations, paranoia or disordered thought), principally in schizophrenia but also in a range of other psychotic disorders. They are also the mainstay, together with mood stabilizers, in the treatment of bipolar disorder. Moreover, they are also used as adjuncts in the treatment of Treatment-resistant depression, treatment-resistant major depressive disorder. The use of antipsychotics may result in many unwanted side effects such as Extrapyramidal symptoms, involuntary movement disorders, gynecomastia, impotence, weight gain and metabolic syndrome. Long-term use can produce List of long term side effects of antipsychotics, adverse effects such as tardive dyskinesia, tardive dystonia, Akathisia, tardive akathisia, and brain tissue volume reduction. The long term use of antipsychotics ...
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Encopresis
Encopresis () is voluntary or involuntary passage of feces outside of toilet-trained contexts (fecal soiling) in children who are four years or older and after an organic cause has been excluded. Children with encopresis often leak stool into their undergarments. This term is usually applied to children, and where the symptom is present in adults, it is more commonly known as ''fecal incontinence'' (including fecal soiling, fecal leakage or fecal seepage). Signs and symptoms (In)voluntary soiling of undergarments. There are two types: with or without constipation. Those with constipation may experience decreased appetite, abdominal pain, have pain on defecation, have fewer bowel movements, and have hard or soft stools.von Gontard A. Encopresis. In Rey JM (ed), IACAPAP e-Textbook of Child and Adolescent Mental Health. Geneva: International Association for Child and Adolescent Psychiatry and Allied Professions 2012. Those without constipation do not have these symptoms. Cau ...
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Constipation
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The Human feces, stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day. Constipation has many causes. Common causes include slow movement of stool within the colon, irritable bowel syndrome, and pelvic floor disorders. Underlying associated diseases include hypothyroidism, diabetes, Parkinson's disease, celiac disease, non-celiac gluten sensitivity, Vitamin B12 deficiency, vitamin B12 deficiency, colon cancer, diverticulitis, and inflammatory bowel disease. Medications associated with constipation in ...
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