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Humeropelviperoneal Muscular Dystrophy With Contractures: A Genetically Heterogeneous Phenotype

Jack E. Riggs, MD; Judith T. Romano, MD; Sydney S. Schochet, Jr, MD; Ludwig Gutmann, MD
Arch Neurol. 1988;45(4):374-375. doi:10.1001/archneur.1988.00520280016008
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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

REFERENCES

Emery AEH, Dreifuss FE:  Unusual type of benign X-linked muscular dystrophy . J Neurol Neurosurg Psychiatry 1966;;29:338-342.
Rowland LP, Fetell M, Olarte M, et al:  Emery-Dreifuss muscular dystrophy . Ann Neurol 1979;;5:111-117.
Hopkins LC, Jackson JA, Elsas LJ:  Emery-Dreifuss humeroperoneal muscular dystrophy: An X-linked myopathy with unusual contractures and bradycardia . Ann Neurol 1981;;10:230-237.
Fenichel GM, Sul YC, Kilroy AW, et al:  An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy . Neurology 1982;;32:1399-1401.
Miller RG, Layzer RB, Mellenthin MA, et al:  Emery-Dreifuss muscular dystrophy with autosomal dominant transmission . Neurology 1985;;35:1230-1233.
Takamoto K, Hirose K, Uono M, et al:  A genetic variant of Emery-Dreifuss disease, muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis . Arch Neurol 1984;;41:1292-1293.

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Emery AEH, Dreifuss FE:  Unusual type of benign X-linked muscular dystrophy . J Neurol Neurosurg Psychiatry 1966;;29:338-342.
Rowland LP, Fetell M, Olarte M, et al:  Emery-Dreifuss muscular dystrophy . Ann Neurol 1979;;5:111-117.
Hopkins LC, Jackson JA, Elsas LJ:  Emery-Dreifuss humeroperoneal muscular dystrophy: An X-linked myopathy with unusual contractures and bradycardia . Ann Neurol 1981;;10:230-237.
Fenichel GM, Sul YC, Kilroy AW, et al:  An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy . Neurology 1982;;32:1399-1401.
Miller RG, Layzer RB, Mellenthin MA, et al:  Emery-Dreifuss muscular dystrophy with autosomal dominant transmission . Neurology 1985;;35:1230-1233.
Takamoto K, Hirose K, Uono M, et al:  A genetic variant of Emery-Dreifuss disease, muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis . Arch Neurol 1984;;41:1292-1293.

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