Dystonia

CATEGORÍAS

What is Dystonia?

Dystonia is a movement disorder that causes the muscles to contract and spasm involuntarily. The neurological mechanism that makes muscles relax when they are not in use does not function properly. Opposing muscles often contract simultaneously as if they are “competing” for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures. There are approximately 13 forms of dystonia, and dozens of diseases and conditions include dystonia as a major symptom.

Dystonia may affect a single body area or be generalized throughout multiple muscle groups. Dystonia affects men, women, and children of all ages and backgrounds. Estimates suggest that no less than 300,000 people in North America are affected. Dystonia causes varying degrees of disability and pain, from mild to severe. There is presently no cure, but multiple treatment options exist and scientists around the world are actively pursuing research toward new therapies.

Although there are multiple forms of dystonia and the symptoms of these forms may outwardly appear quite different, the element that all forms share is the repetitive, patterned, and often twisting involuntary muscle contractions.

Dystonia is a chronic disorder, but the vast majority of dystonias do not impact cognition, intelligence, or shorten a person’s life span. The main exception to this is dystonia that occurs as symptom of another disease or condition that can cause such complications.

How is Dystonia Diagnosed?

At this time, there is no single test to confirm the diagnosis of dystonia. Instead, the diagnosis rests in a physician’s ability to observe symptoms of dystonia and obtain a thorough patient history. In order to correctly diagnose dystonia, doctors must be able to recognize the physical signs and be familiar with the symptoms. In certain instances, tests may be ordered to rule out other conditions or disorders. The kind of physician who is typically in the best position to diagnose dystonia is a movement disorder neurologist.

The dystonia diagnostic process may include:

· Patient history

· Family history

· Laboratory studies such as blood and urine tests, and analysis of cerebrospinal fluid

· Electrical recording techniques, such as electromyography (EMG) or electroencephalography (EEG)

· Genetic testing for specific forms of dystonia

· Other tests and screenings intended to rule out other conditions or disorders

Cause

Categorizing dystonia by the cause is not a simple task and can easily get complicated. The DMRF often states in publications that we don’t know the cause of dystonia because scientists have not yet identified the precise biochemical process in the body that triggers the symptoms. This is often referred to as the “mechanism” of dystonia, and it is suspected that this mechanism is common to all forms of dystonia.
On the other hand, we do know that dystonia can occur as a result of trauma, certain medications, and mutated genes. So, we may say that the mutated DYT1 gene or physical trauma cause dystonia, but these explanations do not address the true origin of the dystonia and what happens inside the body to produce the symptoms.

When describing dystonia by the cause, it may be characterized as primary, secondary, or dystonia-plus.

Primary dystonia

The word primary describes a case in which the dystonia is the only neurological disorder that the person has. Primary dystonias include some genetic forms (such as DYT1 dystonia in which a gene has been identified) and forms for which a cause is not usually found (such as most focal dystonias).

Genetic dystonias may be described using certain terms:

· Sporadic—A case of dystonia that is genetic or presumed to be genetic when the affected person does not have a history of dystonia in the family.

· Familial—Dystonia that is inherited and occurs in multiple members of an extended family.

· Inherited—Dystonia that is passed on genetically from parent or ancestor to a child.

Before any of the dystonia genes were discovered, the word idiopathic was often used to describe the forms that were presumed to be genetic. By definition, idiopathic means “of unknown cause.” Today, if a person’s dystonia is described as idiopathic, that simply means that the cause is not known—it cannot be attributed to trauma, drug exposure, a gene mutation, or another disease or condition.

Secondary dystonia

Are cases that can be attributed to drug exposure, trauma, or another disease or condition. Secondary dystonias include insults to the brain caused by certain kinds of tumors, infections, stroke, metabolic conditions, and toxins.
Dystonia-plus

Sometimes dystonia occurs along with symptoms of other neurological disorders or has a particular quality that resembles another disorder. These forms may be put in a category called dystonia-plus. These forms include:

Dopa-responsive dystonia, in which affected persons have symptoms that resemble the physical attributes of Parkinson’s disease, but do not have full-blown degenerative Parkinson’s disease.

Myoclonic dystonia is included in this category because affected persons may have prominent symptoms that resemble a movement disorder called myoclonus.

Rapid-onset dystonia-parkinsonism, in which affected persons may experience symptoms of both dystonia and parkinsonism, progresses quickly over the course of days or weeks.

X-linked dystonia-parkinsonism is a unique form that affects males of Filipino descent almost exclusively and has many parkinsonian features.

Specific gene mutations have been associated with each of above mentioned forms, which mean that they are genetic and can be inherited.

If you want to obtain full text:

http://www.dystonia-foundation.org/pages/what_is_dystonia_/26.php

CATEGORÍAS

Neurologic, Physical Therapy Treatments

What is Dystonia?

Dystonia is a movement disorder that causes the muscles to contract and spasm involuntarily. The neurological mechanism that makes muscles relax when they are not in use does not function properly. Opposing muscles often contract simultaneously as if they are “competing” for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures. There are approximately 13 forms of dystonia, and dozens of diseases and conditions include dystonia as a major symptom.

Dystonia may affect a single body area or be generalized throughout multiple muscle groups. Dystonia affects men, women, and children of all ages and backgrounds. Estimates suggest that no less than 300,000 people in North America are affected. Dystonia causes varying degrees of disability and pain, from mild to severe. There is presently no cure, but multiple treatment options exist and scientists around the world are actively pursuing research toward new therapies.

Although there are multiple forms of dystonia and the symptoms of these forms may outwardly appear quite different, the element that all forms share is the repetitive, patterned, and often twisting involuntary muscle contractions.

Dystonia is a chronic disorder, but the vast majority of dystonias do not impact cognition, intelligence, or shorten a person’s life span. The main exception to this is dystonia that occurs as symptom of another disease or condition that can cause such complications.

How is Dystonia Diagnosed?

At this time, there is no single test to confirm the diagnosis of dystonia. Instead, the diagnosis rests in a physician’s ability to observe symptoms of dystonia and obtain a thorough patient history. In order to correctly diagnose dystonia, doctors must be able to recognize the physical signs and be familiar with the symptoms. In certain instances, tests may be ordered to rule out other conditions or disorders. The kind of physician who is typically in the best position to diagnose dystonia is a movement disorder neurologist.

The dystonia diagnostic process may include:

· Patient history

· Family history

· Laboratory studies such as blood and urine tests, and analysis of cerebrospinal fluid

· Electrical recording techniques, such as electromyography (EMG) or electroencephalography (EEG)

· Genetic testing for specific forms of dystonia

· Other tests and screenings intended to rule out other conditions or disorders

Cause

Categorizing dystonia by the cause is not a simple task and can easily get complicated. The DMRF often states in publications that we don’t know the cause of dystonia because scientists have not yet identified the precise biochemical process in the body that triggers the symptoms. This is often referred to as the “mechanism” of dystonia, and it is suspected that this mechanism is common to all forms of dystonia.
On the other hand, we do know that dystonia can occur as a result of trauma, certain medications, and mutated genes. So, we may say that the mutated DYT1 gene or physical trauma cause dystonia, but these explanations do not address the true origin of the dystonia and what happens inside the body to produce the symptoms.

When describing dystonia by the cause, it may be characterized as primary, secondary, or dystonia-plus.

Primary dystonia

The word primary describes a case in which the dystonia is the only neurological disorder that the person has. Primary dystonias include some genetic forms (such as DYT1 dystonia in which a gene has been identified) and forms for which a cause is not usually found (such as most focal dystonias).

Genetic dystonias may be described using certain terms:

· Sporadic—A case of dystonia that is genetic or presumed to be genetic when the affected person does not have a history of dystonia in the family.

· Familial—Dystonia that is inherited and occurs in multiple members of an extended family.

· Inherited—Dystonia that is passed on genetically from parent or ancestor to a child.

Before any of the dystonia genes were discovered, the word idiopathic was often used to describe the forms that were presumed to be genetic. By definition, idiopathic means “of unknown cause.” Today, if a person’s dystonia is described as idiopathic, that simply means that the cause is not known—it cannot be attributed to trauma, drug exposure, a gene mutation, or another disease or condition.

Secondary dystonia

Are cases that can be attributed to drug exposure, trauma, or another disease or condition. Secondary dystonias include insults to the brain caused by certain kinds of tumors, infections, stroke, metabolic conditions, and toxins.
Dystonia-plus

Sometimes dystonia occurs along with symptoms of other neurological disorders or has a particular quality that resembles another disorder. These forms may be put in a category called dystonia-plus. These forms include:

Dopa-responsive dystonia, in which affected persons have symptoms that resemble the physical attributes of Parkinson’s disease, but do not have full-blown degenerative Parkinson’s disease.

Myoclonic dystonia is included in this category because affected persons may have prominent symptoms that resemble a movement disorder called myoclonus.

Rapid-onset dystonia-parkinsonism, in which affected persons may experience symptoms of both dystonia and parkinsonism, progresses quickly over the course of days or weeks.

X-linked dystonia-parkinsonism is a unique form that affects males of Filipino descent almost exclusively and has many parkinsonian features.

Specific gene mutations have been associated with each of above mentioned forms, which mean that they are genetic and can be inherited.

If you want to obtain full text:

http://www.dystonia-foundation.org/pages/what_is_dystonia_/26.php

CATEGORÍAS

Neurologic,Physical Therapy Treatments

Dystonia

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