Singh Shivangi

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 Muscular Dystonia
Dystonia is a very complex, highly variable neurological movement disorder
characterized by involuntary muscle contractions. As many as 250,000 people in the
United States have dystonia, making it the third most common movement disorder
behind essential tremor and Parkinson’s disease. It is a condition that knows no age,
ethnic or racial boundaries – it can affect young children to older adults of all races and
ethnicities.
Symptoms 
Some early symptoms include:
 A "dragging leg"
 Cramping of the foot
 Involuntary pulling of the neck
 Uncontrollable blinking
 Speech difficulties
Causes
Most cases of dystonia do not have a specific cause. Dystonia seems to be related to a
problem in the basal ganglia. That's the area of the brain that is responsible for
initiating muscle contractions. The problem involves the way the nerve cells
communicate.
The damage could be the result of:
 Brain trauma
 Stroke
 Tumor
 Oxygen deprivation
 Infection
 Drug reactions
 Poisoning caused by lead or carbon monoxide
Classification
Segmental Dystonia-Segmental dystonia affects two or more parts of the body that are
adjacent or close to one another. Up to 30 percent of people with focal dystonia have
spasms in areas adjacent to the primary site. A common form of segmental dystonia affects
the eyelids, jaw, mouth and lower face. Other types of dystonia include multifocal, which
involves two or more body parts distant from one another; hemidystonia, which affects half
of the body; and generalized, which begins with leg involvement, but generally spreads to
one or more additional regions of the body.
Primary (idiopathic)- The majority of early-onset primary dystonias, which may appear
during childhood or early adulthood, are due to mutations of a gene known as DYT1. This
gene has been mapped to the long arm of chromosome 9 at 9q34.1. In about 90 to 95
percent of cases, symptoms begin in a limb and then spread to other regions of the body.
This form of dystonia has an average age of onset of 12 and seldom develops after age 29.
Secondary (symptomatic)-Secondary (symptomatic) results primarily from secondary
causes. These include environmental, such as exposure to carbon monoxide, cyanide,
manganese or methanol; underlying conditions and diseases such as brain tumors, cerebral
palsy, Parkinson’s disease, stroke, multiple sclerosis, hypoparathyroidism or vascular
malformations; brain/spinal cord injuries; inflammatory, infectious or postinfectious brain
conditions; and specific medications.
Dystonia-plus Syndromes-Dystonia-plus syndromes results from
nondegenerative, neurochemical disorders associated with other neurological
conditions. Dystonia-plus syndromes include dopa-responsive dystonia (DRD) or
Segawa syndrome, rapid-onset dystonia-parkinsonism (RDP) and myoclonus-
dystonia.
Diagnosis
There is no definitive test for dystonia but doctors can make the diagnosis by learning
about the symptoms and performing a neurological exam. Sometimes doctors use
other tests such as a brain MRI to make sure something else is not causing the
symptoms. For patients with early-onset dystonia or those with an affected relative,
doctors may suggest genetic testing.
Treatment
Medications can help reduce the "overdrive" messages that cause muscles to
contract excessively in dystonia. Drugs used include:
 Levodopa
 Procyclidine hydrochloride
 Diazepam
 Lorazepam
 Clonazepam
 Baclofen
 Spinocerebellar ataxia
Spinocerebellar ataxia (SCA) is a term referring to a group of hereditary ataxias that are
characterized by degenerative changes in the part of the brain related to the movement
control (cerebellum), and sometimes in the spinal cord. There are many different types of
SCA, and they are classified according to the mutated (altered) gene responsible for the
specific type of SCA. The types are described using "SCA" followed by a number, according to
their order of identification: SCA1 through SCA40 (and the number continues to grow). The
signs and symptoms may vary by type but are similar, and may include an uncoordinated walk
(gait), poor hand-eye coordination, and abnormal speech (dysarthria).SCA is inherited in
an autosomal dominant manner. However, the term "spinocerebellar" may be found with
other diseases, such as the autosomal recessive spinocerebellar ataxias (SCAR).
Symptoms
Affected people may experience the following:
 Problems with coordination and balance (ataxia)
 Uncoordinated walk
 Poor hand-eye coordination
 Abnormal speech (dysarthria)
 Involuntary eye movement
 Vision problems
 Difficulty processing, learning, and remembering information
Cause
Some types of SCA inherited in an autosomal dominant manner are caused
by trinucleotide repeat expansions. A trinucleotide repeat is a segment
of DNA that is repeated a number of times. It is normal for these repeats to exist
and they typically do not cause any problems. However, a greater than normal
number of repeats can interfere with the function of the gene, resulting in a
genetic condition. Trinucleotide repeats are unstable and can change in length
when passed from parent to child. An increased number of repeats often leads to
an earlier age of onset and more severe disease.
The hereditary ataxias
The hereditary ataxias are categorized by mode of inheritance and
causative gene or chromosomal locus. The hereditary ataxias can be inherited in
an autosomal dominant, autosomal recessive, or X-linked manner.
 Many types of autosomal dominant cerebellar ataxias for which specific genetic
information is available are now known. Synonyms for autosomal-dominant
cerebellar ataxias (ADCA) used prior to the current understanding of the molecular
genetics were Marie's ataxia, inherited olivopontocerebellar atrophy, cerebello-
olivary atrophy, or the more generic term "spinocerebellar degeneration."
(Spinocerebellar degeneration is a rare inherited neurological disorder of
the central nervous system characterized by the slow degeneration of certain areas
of the brain. There are three forms of spinocerebellar degeneration: Types 1, 2, 3.
Symptoms begin during adulthood.)
 There are five typical autosomal-recessive disorders in which ataxia is a prominent
feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency,
ataxia with oculomotor apraxia (AOA), spastic ataxia. Disorder subdivisions:
Friedreich's ataxia, Spinocerebellar ataxia, Ataxia telangiectasia, Vasomotor ataxia,
Vestibulocerebellar, Ataxiadynamia, Ataxiophemia, Olivopontocerebellar atrophy,
and Charcot-Marie-Tooth disease.
Diagnosis
Genetic testing is the best way to confirm SCA and identify the specific type, especially
when a person also has family members with similar features. However, this is only an
option if the disease-causing gene for that particular type of SCA has been identified. At
this time, the genetic cause of some of the types is currently unknown; in these
cases, imaging studies such as computed tomography (CT scan) and/or magnetic
resonance imaging (MRI scan) may be necessary to establish a diagnosis. A CT scan is an
imaging method that uses x-rays to create pictures of cross-sections of the body, while
an MRI scan uses powerful magnets and radio waves to create pictures of the brain and
surrounding nerve tissues. Both of these imaging methods can be used to identify brain
abnormalities found in people with SCA.
Treatment
There is no known cure for spinocerebellar ataxia (SCA). The best treatment options for
SCA vary by type and often depend on the signs and symptoms present in each
person. Physical therapy can help strengthen muscles, while special devices (e.g., cane,
crutches, walker, or wheelchair) can assist in mobility and other activities of daily
life. Many people with SCA have other symptoms in addition to the ataxia such as
tremors, stiffness, muscle spasms, and sleep disorders; medications or other therapies
may be suggested for some of these symptoms. One report described some improvement
in the symptoms with zolpidem 10 mg in four out of five family members with SCA type
2, and a trial of 20 patients with SCA3 found that varenicline led to improvement in
some, but not all of the symptoms.
 Friedreich’s Ataxia
Friedreich’s ataxia is a rare genetic disease that causes difficulty walking, a loss of
sensation in the arms and legs, and impaired speech. It’s also known as spinocerebellar
degeneration. The disease causes damage to parts of your brain and spinal cord, and can
also affect your heart.
Symptoms
Difficulty with walking is the most common initial symptom of the condition. Other
symptoms include:
 vision changes
 loss of hearing
 weak muscles
 lack of reflexes in your legs
 poor coordination or lack of coordination
 speech problems
 involuntary eye movements
 foot deformities, such as clubfoot
 difficulty sensing vibrations in your legs and feet
Cause
Friedreich’s ataxia is a genetic disorder that’s inherited from both parents by what’s
called “autosomal recessive transmission.” The disease is linked to a gene called FXN.
Normally this gene will cause your body to produce up to 33 copies of a specific DNA
sequence.
People with a family history of Friedreich’s ataxia are at greater risk of inheriting this
disease. If the defective gene is only passed down from one parent, the person becomes a
carrier of the disease but usually doesn’t experience symptoms of it.
Diagnosis
 The signs of damage include poor balance, lack of reflexes, and a lack of
sensation in your arms and legs that may spread to other parts of the body,
including joints.
 CT or MRI scan
 X-ray of your head, spine or chest maybe taken.
 Electromyography
 Nerve conduction study can help to see how quickly your nerves send
impulses.
Treatment
The specific treatment will depend on the type of ataxia and how severe it is. In
some cases of acquired ataxia, treating the underlying cause, such as an
infection or a vitamin deficiency, can ease symptoms.