dystonia musculorum deformans (DMD), 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. ▪ OBSERVATIONS: 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 a distinctive, 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. ▪ INTERVENTIONS: 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 physical therapy. Deep brain stimulation (DBS) may be employed, especially when medications do not sufficiently alleviate symptoms or the side effects are too severe. Speech therapy is helpful when the oral musculature is affected. Physical and occupational therapy, the use of splints, stress management, and biofeedback may benefit the patient. ▪ PATIENT CARE CONSIDERATIONS: The care and support of the patient and family are complex. A coordinated team approach will assist in the management of the disorder. Genetic counseling should be considered for the family of a child with DMD.
