Focal dystonia, or focal task specific dystonia, is a neurological condition, a type of dystonia, that affects a muscle or group of muscles in a specific part of the body during specific activities, causing involuntary muscular contractions and abnormal postures. There are many different types of focal dystonia, each effecting a different region of the body. For example, in focal hand dystonia, or writers cramp, the fingers either curl into the palm or extend outward without control. In musicians, the condition is called musicians focal dystonia, or simply, musicians dystonia. In sports, it may be involved in what is commonly referred to as the yips. The condition appears to be associated with over-training, and individualized treatment strategies may involve medications, retraining techniques, and procedures. Signs and Symptoms
People with dystonia experience tightness, cramping, fatigue, involuntary sustained or repetitive muscle contractions that can be painless or painful and resulting in abnormal posturing, twisting motions, and even tremors. Focal dystonia typically presents in adults, more commonly in women ranging from ages 30 through 40. Major types of focal dystonia affect the limbs, face, mouth, neck, and larynx. These focal dystonias can be exclusive to specific tasks, like writing or playing an instrument. Focal dystonia will typically have a subtle and slow onset before slowly worsening over years. During the beginning stages, symptoms can be intermittent and without clear associations and provocation. The progression of this disease can vary from person to person.
Lethal PPS is differentiated by microcephaly, corneal aplasia, ectropion, bony fusions, hypoplastic nose and absent thumbs, while PPS with Ectodermal Dysplasia is differentiated by woolly hair, brittle nails, ectodermal anomalies, and fissure of the sacral vertebrae. Relationship to Van der Woude syndrome
Van der Woude syndrome (VDWS) and popliteal pterygium syndrome (PPS) are allelic variants of the same condition; that is, they are caused by different mutations of the same gene. PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations. Diagnosis
Treatment
Epidemiology
The diagnosis of PPS has been made in several ethnic groups, including Caucasian, Japanese, and sub-Saharan African. Males and females are equally likely to have the syndrome. Since the disorder is rare, its incidence rate is difficult to estimate, but is less than 1 in 300,000. See also
List of cutaneous conditions
Multiple pterygium syndrome

References


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