dystonia musculorum deformans

dystonia /dys·to·nia/ (-to´ne-ah) dyskinetic movements due to disordered tonicity of muscle.dyston´ic

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dystonia musculo´rum defor´mans  a hereditary disorder marked by involuntary, irregular, clonic contortions of the muscles of the trunk and limbs, which twist the body forward and sideways grotesquely.

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dystonia mus·cu·lo·rum de·for·mans (msky-lôrm d-fôrmnz)

n.

A disease, especially of children, characterized by muscular contractions that produce distortions of the spine and hips with the muscles being spastic when in action and without tension when at rest.

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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.