dystonia musculorum deformans


Also found in: Dictionary, Acronyms, Encyclopedia.

dys·to·ni·a mus·cu·lo·rum de·for·mans

a genetic, environmental, or idiopathic disorder, usually beginning in childhood or adolescence, marked by muscular contractions that distort the spine, limbs, hips, and sometimes the cranial innervated muscles. The abnormal movements are increased by excitement and, at least initially, abolished by sleep. The musculature is hypertonic when in action, hypotonic when at rest. Hereditary forms usually begin with involuntary posturing of the foot or hand (autosomal recessive form [MIM*224500]) or of the neck or trunk (autosomal dominant form [MIM*128100]); both forms may progress to produce contortions of the entire body.

dystonia musculorum deformans

a rare abnormal condition characterized by intense, irregular torsion muscle spasms that contort the body. The muscles of the trunk, shoulder, and pelvis are commonly involved. This disease appears in several forms, generally classified as autosomal recessive or autosomal dominant. The cause of this disorder is not known; a biochemical dysfunction is suspected. The autosomal recessive form appears most often in Ashkenazic Jews and starts between 5 and 15 years of age, causing abnormalities of movement and speech. Muscle power and tone appear normal, but convulsive spasms make the involved muscles relatively useless. The autosomal-recessive form of the disease commonly begins with intermittent spasmodic inversion of the foot, so that the affected individual has difficulty in placing the heel on the ground when walking and an odd, bowing gait develops. Lordosis and torsion of pelvis appear as the proximal muscles become more involved. Torticollis is often an early sign if the muscles of the neck and shoulder girdle are affected. The autosomal-dominant form of the disease appears in early adult life, generally affects the axial musculature, and progresses more slowly than the autosomal-recessive form. Some muscle-relaxing drugs, such as the benzodiazepines, have been helpful in treating both forms of the condition. Mild cases have been successfully controlled for long periods with treatments that combine the use of muscle-relaxing drugs and psychotherapy.

dys·to·ni·a mus·cu·lo·rum de·for·mans

(dis-tō'nē-ă mŭs-kyū-lō'rŭm dĕ-form'anz)
A genetic, environmental, or idiopathic disorder, usually beginning in childhood or adolescence, marked by muscular contractions that distort the spine, limbs, hips, and sometimes the cranial-innervated muscles. The abnormal movements are increased by excitement and, at least initially, abolished by sleep. The musculature is hypertonic when in action, hypotonic when at rest.

Ziehen,

Georg T., German psychiatrist, 1862-1950.
Ziehen-Oppenheim disease - a disorder beginning in childhood or adolescence marked by muscular contractions that distort the spine and hips. Synonym(s): dystonia musculorum deformans