Blepharospasm dystonia musculorum deformans. Medical search. Frequent questions

Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD). (nih.gov)
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset. (nih.gov)
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. (nih.gov)
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. (wikipedia.org)
There are several types of torsion dystonia that affect different areas of the body. (wikipedia.org)
However, it is unknown if the gene that causes Early-onset torsion dystonia is responsible for the other dystonias as well. (wikipedia.org)
Early-onset torsion dystonia: The most severe type of dystonia, it begins in an arm or leg and progresses to the rest of the body until the person - in most cases, a child - is reliant on a wheelchair. (wikipedia.org)
There is no cure for torsion dystonia. (wikipedia.org)
A fourth option in the treatment for the symptoms of torsion dystonia is surgery. (wikipedia.org)

Other techniques include transection of the spinal accessory nerve for cervical dystonia, stereotactic thalamotomy or pallidotomy for generalized dystonia, and deep brain stimulation (DBS). (medscape.com)
Cervical dystonia (spasmodic torticollis): A type of dystonia that affects the head, neck and spine. (wikipedia.org)

Botulinum toxin injections improve focal dystonia but may worsen swallowing in individuals with preexisting dysphagia. (nih.gov)

Focal dystonias, such as blepharospasm or torticollis, may be treated with injected botulinum toxin, which paralyzes hypertonic muscle groups. (tabers.com)

Orofacial-Buccal dystonia (Meige's or Brueghal's Syndrome): A combination of blepharospasm and oromandibular dystonia. (wikipedia.org)

This may occur in stroke or dystonia-parkinsonism syndrome and lead to painful positioning of the leg, impaired gait, and altered bone development. (medscape.com)
Patients with generalized dystonia often benefit from gait and mobility training, as well as from instruction in the use of assistive devices. (medscape.com)

Dystonia (from Greek, meaning altered muscle tone) refers to a syndrome of involuntary sustained or spasmodic muscle contractions involving co-contraction of the agonist and the antagonist. (medscape.com)

Blepharospasm: This type of dystonia causes involuntary contraction of the eyelids. (wikipedia.org)

This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. (wikipedia.org)
The complications surrounding this form of dystonia are speech related and can cause symptoms such as speech that wavers, speech that sounds like a whisper, or speech that is hesitant. (wikipedia.org)
those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. (nih.gov)
Molecular genetic testing for variants that tag a disease-associated haplotype of the multilocus transcript system termed TAF/DYT3 is required to confirm the diagnosis in those with no known family history of XDP, very early symptoms, and/or a phenotype of pure parkinsonism, pure tremor, or chorea without dystonia. (nih.gov)

the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. (nih.gov)

While there was no correlation found between impaired body concept and severity of dystonia, such an association did exist with regard to self-rated depression and dystonic severity. (medscape.com)
Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. (nih.gov)

The type of surgery performed is specific to the type of dystonia that the patient has[citation needed]. (wikipedia.org)

Upper limb dystonia causes cramping and posturing of the elbows, hands, and fingers that lead to the inability to perform certain occupational tasks. (medscape.com)
Writer's cramp (occupational dystonia): A dystonia that affects the muscles of the hand and forearm. (wikipedia.org)

The frequent abnormal posturing and twisting can be painful, and the functional impact of dystonia can vary from barely noticeable to severely disabling. (medscape.com)

Surgical options for intractable dystonias include altering the location or length of problematic muscles, but this is rarely successful. (medscape.com)

Oromandibular dystonia: A dystonia of the jaw, lips, and/or the tongue. (wikipedia.org)

Psychological counseling and participation in support groups are vital adjuncts to medical and physical approaches in the multidisciplinary management of dystonia. (medscape.com)
Because of the risk of significant comorbidity, surgical approaches are reserved for patients with disabling dystonia in whom other treatment modalities have been exhausted. (medscape.com)

Bilateral pallidal deep brain stimulation may be used to treat advanced disease and medically refractory dystonia, although it may have less effect on parkinsonism. (nih.gov)
Drugs used to treat psychosis, Parkinson disease, strokes, brain tumors, toxic levels of manganese or carbon dioxide, and viral encephalitis may produce dystonia. (tabers.com)

Consequently, dystonias can have a profound effect on the personal, vocational, and emotional life of a patient and can impact his/her ability to live independently. (medscape.com)
Offending drugs are withdrawn, and the patient may be treated with diphenhydramine, or, in the case of dystonias caused by neuroleptic drugs, benztropine. (tabers.com)

A study by Paracka et al indicated that patients with dystonia have an impaired body concept, particularly with regard to general health, body care, physical efficacy, sexuality, and physical appearance. (medscape.com)

Pharmacologic agents are used to treat dystonia or parkinsonism or both. (nih.gov)