eMedicine Specialties > Orthopedic Surgery > Pediatrics

Muscular Dystrophy: Follow-up

Author: Twee Do, MD, Assistant Professor, Department of Pediatric Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Neuromuscular Orthopedic Services, Cincinnati Children's Hospital Medical Center
Contributor Information and Disclosures

Updated: Mar 31, 2009

Outcome and Prognosis

Despite modern advances in gene therapy and molecular biology, MD remains incurable. With proper care and attention, patients have a better quality of life than they would otherwise, but most still die by the time they are age 30 years, usually as a result of cardiopulmonary failure.

Future and Controversies

The ability of advancing technology and molecular biology with fetal blood detection of affected fetuses as early as the first trimester opens the door to many ethical issues. One such issue is whether pregnancy termination should be available as an option when a muscle disease is detected that may be fatal in the third decade of life.

 


More on Muscular Dystrophy

Overview: Muscular Dystrophy
Workup: Muscular Dystrophy
Treatment: Muscular Dystrophy
Follow-up: Muscular Dystrophy
References
Further Reading

References

  1. Conte G, Gioja L. Scrofola del sistema muscolare. Annali Clinici dell'Ospedale degli Incurabili di Napoli. 1836;2:66-79.

  2. Meryon E. On granular and fatty degeneration of the voluntary muscles. Medico-Chirurgical Trans. 1852;35:73-4.

  3. Duchenne GBA. Recherches sur la paralysie musculaire pseudo-hypertrophique ou paralysie myo-sclerosique. Arch Gen Med. 1868;11:5-25.

  4. Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, et al. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. Eur J Med Genet. Dec 27 2008;[Medline].

  5. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. Dec 24 1987;51(6):919-28. [Medline].

  6. Dubowitz V. Muscle Disorders in Childhood. 2nd ed. Philadelphia, Pa: WB Saunders;1995: 34-132.

  7. Emery AE. Duchenne's muscular dystrophy. In: Oxford Monographs on Medical Genetics Series #24. 2nd ed. Oxford, United Kingdom: Oxford University Press;. 1993.

  8. Emery AE. Population frequencies of inherited neuromuscular diseases--a world survey. Neuromuscul Disord. 1991;1(1):19-29. [Medline].

  9. Shapiro F, Specht L. The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. J Bone Joint Surg Am. Mar 1993;75(3):439-54. [Medline].

  10. Pratt MF, Meyers PK. Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. Laryngoscope. Apr 1986;96(4):368-73. [Medline].

  11. Bushby K. Genetics and the muscular dystrophies. Dev Med Child Neurol. Nov 2000;42(11):780-4. [Medline].

  12. González-Herrera L, Gamas-Trujillo PA, García-Escalante MG, Castillo-Zapata I, Pinto-Escalante D. [Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy]. Rev Neurol. Jan 16-31 2009;48(2):66-70. [Medline].

  13. Dickey RP, Ziter FA, Smith RA. Emery-Dreifuss muscular dystrophy. J Pediatr. Apr 1984;104(4):555-9. [Medline].

  14. Miller RG, Layzer RB, Mellenthin MA, et al. Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology. Aug 1985;35(8):1230-3. [Medline].

  15. Dobrowski JM, Zajtchuk JT, LaPiana FG, Hensley SD Jr. Oculopharyngeal muscular dystrophy: clinical and histopathologic correlations. Otolaryngol Head Neck Surg. Sep 1986;95(2):131-42. [Medline].

  16. Waite A, Tinsley CL, Locke M, Blake DJ. The neurobiology of the dystrophin-associated glycoprotein complex. Ann Med. Jan 26 2009;1-16. [Medline].

  17. Banks GB, Chamberlain JS, Froehner SC. Truncated dystrophins can influence neuromuscular synapse structure. Mol Cell Neurosci. Jan 8 2009;[Medline].

  18. Donders J, Taneja C. Neurobehavioral Characteristics of Children with Duchenne Muscular Dystrophy. Child Neuropsychol. Jan 22 2009;1-10. [Medline].

  19. Prosser EJ, Murphy EG, Thompson MW. Intelligence and the gene for Duchenne muscular dystrophy. Arch Dis Child. Apr 1969;44(234):221-30. [Medline].

  20. Leibowitz D, Dubowitz V. Intellect and behaviour in Duchenne muscular dystrophy. Dev Med Child Neurol. Oct 1981;23(5):577-90. [Medline].

  21. Thompson GH, Berenson FR. Other neuromuscular disorders. In: Morrissy RT, Weinstein SL, Winter RB, eds. Lovell and Winter's Pediatric Orthopaedics. 5th ed. Lippincott Williams & Wilkins;. 2000: 540-51.

  22. Sussman MD. Advantage of early spinal stabilization and fusion in patients with Duchenne muscular dystrophy. J Pediatr Orthop. Sep 1984;4(5):532-7. [Medline].

  23. Weimann RL, Gibson DA, Moseley CF. Surgical stabilization of the spine in Duchenne muscular dystrophy. Spine. Oct 1983;8(7):776-80. [Medline].

  24. Almenrader N, Patel D. Spinal fusion surgery in children with non-idiopathic scoliosis: is there a need for routine postoperative ventilation?. Br J Anaesth. Dec 2006;97(6):851-7. [Medline].

  25. Kinali M, Messina S, Mercuri E, et al. Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study. Dev Med Child Neurol. Jun 2006;48(6):513-8. [Medline].

  26. Birnkrant DJ. New challenges in the management of prolonged survivors of pediatric neuromuscular diseases: a pulmonologist's perspective. Pediatr Pulmonol. Dec 2006;41(12):1113-7. [Full Text].

  27. Miller RG, Chalmers AC, Dao H, et al. The effect of spine fusion on respiratory function in Duchenne muscular dystrophy. Neurology. Jan 1991;41(1):38-40. [Medline].

  28. Miller F, Moseley CF, Koreska J, Levison H. Pulmonary function and scoliosis in Duchenne dystrophy. J Pediatr Orthop. Mar-Apr 1988;8(2):133-7. [Medline].

  29. Thrush PT, Allen HD, Viollet L, Mendell JR. Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. Am J Cardiol. Jan 15 2009;103(2):262-5. [Medline].

  30. Chamberlain JS, Gibbs RA, Ranier JE. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. Dec 9 1988;16(23):11141-56. [Medline][Full Text].

  31. Miyazaki D, Yoshida K, Fukushima K, Nakamura A, Suzuki K, Sato T, et al. Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. J Hum Genet. Jan 9 2009;[Medline].

  32. Drachman DB, Toyka KV, Myer E. Prednisone in Duchenne muscular dystrophy. Lancet. Dec 14 1974;2(7894):1409-12. [Medline].

  33. Mendell JR, Moxley RT, Griggs RC, et al. Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med. Jun 15 1989;320(24):1592-7. [Medline].

  34. Hamed SA. Drug evaluation: PTC-124--a potential treatment of cystic fibrosis and Duchenne muscular dystrophy. IDrugs. Nov 2006;9(11):783-9. [Medline].

  35. PTC Therapeutics, Inc. PTC124 FAQs: frequently asked questions about PTC124. Available at: http://www.ptcbio.com/2.4_faqs.aspx. Accessed: March 19, 2007. [Full Text].

  36. Ragot T, Vincent N, Chafey P, et al. Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice. Nature. Feb 18 1993;361(6413):647-50. [Medline].

  37. Wang Z, Allen JM, Riddell SR. Immunity to adeno-associated virus-mediated gene transfer in a random-bred canine model of Duchenne muscular dystrophy. Hum Gene Ther. Jan 2007;18(1):18-26. [Medline].

  38. Howell J, Lochmuller H, O'Hara A. High level dystrophin expression with adenovirus-mediated dystrophin minigene transfer to skeletal muscle of dystrophic dogs: prolongation of expression with immunosuppresion. Hum Gene Ther. Mar 20 1998;9(5):629-34. [Medline].

  39. Griggs RC, Karparti G, eds. Myoblast Transfer Therapy (Advances in Experimental Medicine and Biology). Dordrecht, The Netherlands: Kluwer Academic Publishers;. 1990.

  40. Rando TA. Non-viral gene therapy for Duchenne muscular dystrophy: Progress and challenges. Biochim Biophys Acta. Feb 2007;1772(2):263-71. [Medline].

  41. Wells DJ. Therapeutic restoration of dystrophin expression in Duchenne muscular dystrophy. J Muscle Res Cell Motil. 2006;27(5-7):387-98. [Medline].

  42. Judge LM, Chamberlain JS. Gene therapy for Duchenne muscular dystrophy: AAV leads the way. Acta Myol. Dec 2005;24(3):184-93. [Medline].

  43. Gurpur PB, Liu J, Burkin DJ, Kaufman SJ. Valproic Acid Activates the PI3K/Akt/mTOR Pathway in Muscle and Ameliorates Pathology in a Mouse Model of Duchenne Muscular Dystrophy. Am J Pathol. Jan 29 2009;[Medline].

  44. Brooke MH, Fenichel GM, Griggs RC, et al. Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology. Apr 1989;39(4):475-81. [Medline].

  45. Heckmatt JZ, Dubowitz V, Hyde SA, et al. Prolongation of walking in Duchenne muscular dystrophy with lightweight orthoses: review of 57 cases. Dev Med Child Neurol. Apr 1985;27(2):149-54. [Medline].

  46. Drennan J. Neuromuscular disorders. In: Lowell WW, Morrissy RT, Winter RB, eds. Lovell and Winter's Pediatric Orthopaedics. 3rd ed. Philadelphia, Pa:. Lippincott Williams & Wilkins;1990:381.

  47. Yount CC. The role of tensor fascia femoris in certain deformities of the lower extremities. J Bone Joint Surg. 1926;8:171-93.

  48. Gaine WJ, Lim J, Stephenson W. Progression of scoliosis after spinal fusion in Duchenne's muscular dystrophy. J Bone Joint Surg Br. May 2004;86(4):550-5. [Medline].

  49. Sengupta DK, Mehdian SH, McConnel JR. Pelvic or lumbar fixation for the surgical management of scoliosis in Duchenne muscular dystrophy. Spine. Sep 15 2002;27(18):2072-9. [Medline].

  50. Mubarak SJ, Morin WD, Leach J. Spinal fusion in Duchenne muscular dystrophy-fixation and fusion to the sacropelvis?. J Pediatr Orthop. Nov-Dec 1993;13(6):752-7. [Medline].

Keywords

muscular dystrophy, MD, dystrophinopathies, Duchenne muscular dystrophy, Duchenne MD, Becker muscular dystrophy, Becker MD, congenital muscular dystrophy, congenital MD, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, Emery-Dreifuss MD, dystrophin defects, Gower sign, Gower's sign, progressive muscle weakness, proximal muscle weakness, PTC124, PTC-124

Contributor Information and Disclosures

Author

Twee Do, MD, Assistant Professor, Department of Pediatric Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Neuromuscular Orthopedic Services, Cincinnati Children's Hospital Medical Center
Twee Do, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons and American Academy of Pediatrics
Disclosure: Nothing to disclose.

Medical Editor

Charles T Mehlman, DO, MPH, Director, Musculoskeletal Outcomes Research, Associate Professor, Division of Pediatric Orthopedic Surgery, Cincinnati Children's Hospital Medical Center
Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

George H Thompson, MD, Director, Pediatric Orthopedics, Rainbow Babies and Children's Hospital
George H Thompson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dennis P Grogan, MD, Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

 
 
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