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April 1988

Humeropelviperoneal Muscular Dystrophy With Contractures: A Genetically Heterogeneous Phenotype

Author Affiliations

Department of Neurology
Department of Pediatrics
Department of Pathology
Department of Neurology West Virginia University Medical Center Morgantown, WV 26506

Arch Neurol. 1988;45(4):374-375. doi:10.1001/archneur.1988.00520280016008

To the Editor.  —Muscle disorders resembling X-linked Emery-Dreifuss muscular dystrophy1-3 with associated cardiac disease have been described in families with apparent autosomal dominant4-5 and recessive6 inheritance.Humeropelviperoneal muscular dystrophy with contractures is being recognized with increased frequency and appears to be a genetically heterogeneous phenotype. We describe a woman with humeropelviperoneal muscular dystrophy who had contractures, but no cardiac disease.

Report of a Case.  —A 27-year-old woman initially presented for neuromuscular evaluation at age 23 years. She had always been slower and weaker than her peers. She had had delayed motor milestones and did not walk until age 21 months. Her gait had always been abnormal and was described as a "duck" waddle. She also tended to walk on her toes and had undergone a left Achilles tendon lengthening procedure at age 18 years. At age 12 years, the patient became aware of the inability to straighten

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