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NEUROLOGY 1992;42:967
© 1992 American Academy of Neurology

Dystrophinopathy in isolated cases of myopathy in females

E. P. Hoffman, PhD, K. Arahata, MD, C. Minetti, MD, E. Bonilla, MD, L. P. Rowland, MD, C. Angelini, MD, E. Arikawa, MD, C. Baba, MD, P. E. Barkhaus, MD, S. C. Bauserman, MD, I. J. Butler, MD, J. D. Cook, MD, J. G. Chutkow, MD, G. Cordone, MD, O. B. Evans, MD, A. Fideianska, MD, C. Garcia, MD, J. M. Gilchrist, MD, M. Glasberg, MD, K. Hamada, MD, T. Ishihara, MD, N. Ishikawa, MD, S. D. Johnsen, MI, K. Kamakura, MD, O. Kikumoto, MD, M. Kinoshita, MD, K. Kumagai, MD, H. Marks, MD, W. Marks, MD, J. Maytal, MD, M. Moggio, MD, E. Moser, MD, M. A. Nigro, MD, W. Noll, MD, I. Nonaka, MD, A. Prelle, MD, M. G. Iieyes, MD, E. Ricci, MD, AD. Roses, MD, R. Sakuta, MD, E. Satoyoshi, MD, S. Servidei, MD, A. Smith, MS, M. Steele, MD, S. H. Subramony, MD, N. Sunohara, MD, J. Z. Wang, MD, H. B. Wessel, MD, T. Yanagawa, MD, T. Munsat, MD, I. Hausmanowa-Petrusewicz, MD and H. Sugita, MD

1Molecular Genetics and Biochemistry, Human Genetics, and Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261.
2Nationa1 Institute of Neuroscience, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187, Japan.
3Department of Neurology, College of Physicians and Surgeons of Columbia University, Columbia-Presbyterian Medical Center, New York, NY 10032.
4Clinica Neurologica, University of Padova, via Giustiniani 5, 35128 Padua, Italy.
5Japanese Red Cross Nagasaki Atomic Bomb Hospital, 3-15 Mori-machi, Nagasaki City, Nagasaki 852, Japan.
6Neurology Service, Veterans Administration Medical Center, Minneapolis, MN 55417.
7Neuropathology, Scott and White Clinic, Temple, TX 76508.
8Neurology, University of Texas Health Science Center: 6431 Fannin, Suite 7.044 MSB, Houston. TX 77030.
9Department of Neurology, Texas Scottish Rite Hospital, 2222 Wellborn St., Dallas, TX.
10Department of Neurology, State IJnivwsity of New York at Buffalo, 426 Gardier St., Buffalo, NY 14215.
11Pediatric Clinic, Istituto G. Gaslini, Largo G. Gaslini 5, 16148 Genoa, Italy.
12Department of Pediatrics, University Medical Center, Jackson, MS 39216.
13Department of Neurology, LSU Mrdical Center, 1542 Tulane Ave., New Orleans, LA 70112.
14Neuromuscular Unit, Polish Academy of Sciences, ul. Banacha, 02 097 Warsaw, Poland.
15Neurology, Rhode Island Hospital, Providence, RI.
16Neurology, Henry Ford Hospital, 2799 W. Grand Blvd., Detroit, MI 48202.
17Department of Pediatrics, Miyazaki-kenritsu Hospital, 5-30 Kita-takamatsu cho, Miyazaki City, Miyazaki 880, Japan.
18National Higashi-Saitama Hospital, Saitama 349-01, Japan.
19Department of Pediatrics, Kitami Red Cross Hospital, Higashi 2, Kita 6, Kitami-shi, Hokkaidou 196, Japan.
20Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, 350 West Thomas Road, Phoenix, AZ 85013.
21National Defence Medical College, 3-2 Namiki, Tokorozawa City, Saitama-ken 359, Japan.
22Department of Neuropsychiatry, Hiroshima University School of Medicine, 1-2-3 Kasumi, Minami-ku, Hiroshima 730, Japan.
23Ohashi Hospital, Toho Medical College, 2-17-6 Ohashi, Memro-ku. Tokvo 153. JaDan.
24Kanagawa Rehabilitation Hospital, 516 Nanasawa, Atsugi City, Kanagawa-ken 243-01, Japan.
25Division of Neurology, Alfred I. DuPont Hospital, 1600 Rockland Rd., Wilmington, DE 19899.
26Child Neurology Associates, 709 Leuda, Ft. Worth, TX 76104.
27Schneider Children's Hospital, Long Island Jewish Medical Center, New Hyde Park, NY 11402.
28Istituto di Clinica Neurologica, Centro Dino Ferrari, Universita di Milano, Via F. Sforza, 35,20122 Milan, Italy.
29Department of Clinical Pathology, Dartmouth-Hitchcock Medical Center, 2 Maynard St., Hanover, NH 03756.
30Michigan Institute for Neurological Disorders, 28595 Orchard Lake, Farmington Hills, MI 48334.
31Division of Pathology, Cook County Hospital, 67 South Wood St., Chicago, IL.
32Department of Neurology, Universita Cattolica del Sacro Cuore, Rome, Italy.
33Department of Neurology, Duke University Medical Center, NC.
34Department of Pediatrics, Numazu City Hospital, 550 Harunoki, Toushiji, Numazu City, Shizuoka, Japan.
35Department of Neurology, Universita Cattolica del Sacro Cuore, Rome, Italy.
36Division of Genetics, Children's Hospital Denver, 1056 E. 19th Ave., Denver, CO 80218.
37Children's Hospital of Pittsburgh, Pittsburgh, PA 15213.
38Neurology, University Hospital, 2500 N. State St., Jackson, MI 39216.
39Department of Pediatrics, Wakayama Medical College. 27-7 Wakayama-shi, Wakayama 640, Japan.
40Neurology, New England Medical Center, 750 Washington St. Boston, MA 02111.

X-linked dystrophinopathy is the most common cause of isolated cases of myopathy in males. To investigate dystrophin abnormalities as a cause of myopathy in girls and women, we used dystrophin immunocytochemistry to study muscle biopsies from 505 girls and women with neuromuscular disease. Forty-six muscle biopsies showed a combination of fibers containing or lacking dystrophin; this mosaic immunostaining pattern denoted a carrier status. Twenty-one of 46 (45.6%) had a family history of Duchenne muscular dystrophy in males. Twenty-five of 46 (54.3%) were isolated cases, with no previous family history of neuromuscular disorder. The laboratory findings of the isolated cases were consistent with the familial cases; all showed myopathic histopathology and abnormal elevations of serum CK. The clinical presentations of the isolated cases varied but were consistent with the familial cases: 40% (10/25) of isolated cases showed proximal limb weakness before age 10, 24% (6/25) presented with myalgias or cramps, 24% (6/25) presented with incidental findings of grossly elevated CK levels, 8% (2/25) noted easy fatigue, and 4% (1/25) had slowly progressive proximal limb weakness beginning at age 45. From our data, the clinical criteria for consideration of an underlying dystrophinopathy in isolated female cases of myopathy are CK levels greater than 1,000 IU/1 and myopathic histopathology. About 10% of the isolated cases of hyperCKemic myopathy (25/210) were proven by dystrophin analysis to have a dystrophinopathy as the cause of their disease (manifesting carriers of Duchenne dystrophy). However, we feel that this may be an underestimate. The correct diagnosis in these patients is imperative for appropriate genetic counseling to the patients and their families.

Address correspondence and reprint request to Dr. E.P. Hoffman, Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, Biomedical Science Tower, Pittsburgh, PA 15261; Dr. K. Arahata, National Institute of Neuroscience, 4–1–1 Ogawahigashi-cho, Kodaira, Tokyo 187, Japan; or Dr. E. Bonilla, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.

Support for this work was provided hg the National Institute of Neurological Disorders and Stroke (NS29525. E. Hoffman: NS11766, E. Bonilla), the Ministry of Education, Science and Culture, and the National Center for Neurology and Psychiatry of the Ministry of Health and Kelfare of Japan (K. Arahata), and the Muscular Dystrophy Association (E. Hoffman, E. Bonilla, and K. Arahata).

Received January 8, 1992. Accepted for publication in final form January 22, 1992.






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