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Rehabilitation Management of Neuromuscular Disease: Multimedia

Author: Gregory T Carter, MD, MS, Clinical Professor of Rehabilitation Medicine, University of Washington School of Medicine; Medical Director, Muscular Dystrophy Association Clinics, Seattle and Olympia, WA
Contributor Information and Disclosures

Updated: Jul 1, 2009

Multimedia

Werdnig-Hoffman disease (a type of spinal muscula...
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Media file 1: Werdnig-Hoffman disease (a type of spinal muscular atrophy). Small muscle fibers within separate muscle fascicles.
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Werdnig-Hoffman disease (a type of spinal muscula...

Werdnig-Hoffman disease (a type of spinal muscular atrophy). Small muscle fibers within separate muscle fascicles.

Axial magnetic resonance imaging (MRI) scan of th...
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Media file 2: Axial magnetic resonance imaging (MRI) scan of the calves, demonstrating significant atrophy and increased signal intensity (arrows) throughout the anterior and posterior compartment muscles in the right calf, in comparison with the left calf, in a patient with focal motor neuron disease.
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Axial magnetic resonance imaging (MRI) scan of th...

Axial magnetic resonance imaging (MRI) scan of the calves, demonstrating significant atrophy and increased signal intensity (arrows) throughout the anterior and posterior compartment muscles in the right calf, in comparison with the left calf, in a patient with focal motor neuron disease.

Kugelberg-Welander disease (a type of spinal musc...
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Media file 3: Kugelberg-Welander disease (a type of spinal muscular atrophy). Marked variation in muscle fiber size along with increased perimysial connective tissue.
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Kugelberg-Welander disease (a type of spinal musc...

Kugelberg-Welander disease (a type of spinal muscular atrophy). Marked variation in muscle fiber size along with increased perimysial connective tissue.

Foot deformities in a 16-year-old boy with Charco...
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Media file 4: Foot deformities in a 16-year-old boy with Charcot-Marie-Tooth disease type 1A.
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Foot deformities in a 16-year-old boy with Charco...

Foot deformities in a 16-year-old boy with Charcot-Marie-Tooth disease type 1A.

(A) Normal dystrophin staining; (B) intermediate ...
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Media file 5: (A) Normal dystrophin staining; (B) intermediate dystrophin staining in a patient with Becker muscular dystrophy; (C) Absent dystrophin staining in a patient with Duchenne muscular dystrophy.
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(A) Normal dystrophin staining; (B) intermediate ...

(A) Normal dystrophin staining; (B) intermediate dystrophin staining in a patient with Becker muscular dystrophy; (C) Absent dystrophin staining in a patient with Duchenne muscular dystrophy.

Photomicrograph of quadriceps muscle from an adul...
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Media file 6: Photomicrograph of quadriceps muscle from an adult mdx mouse (a genetically homologous model of Duchene muscular dystrophy) 3 days following running exercise and subsequent tail vein injection of 10,000 molecular weight fluorescent dextran. Significant intracellular staining exists in several fibers (center), indicating membrane damage. Central nuclei, present in regenerating fibers, are shown by focal intense areas of fluorescence.
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Photomicrograph of quadriceps muscle from an adul...

Photomicrograph of quadriceps muscle from an adult mdx mouse (a genetically homologous model of Duchene muscular dystrophy) 3 days following running exercise and subsequent tail vein injection of 10,000 molecular weight fluorescent dextran. Significant intracellular staining exists in several fibers (center), indicating membrane damage. Central nuclei, present in regenerating fibers, are shown by focal intense areas of fluorescence.

Four-year-old boy with Werdnig-Hoffmann disease (...
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Media file 7: Four-year-old boy with Werdnig-Hoffmann disease (a type of spinal muscular atrophy). A chest radiograph reveals the presence of significant 32º left thoracic scoliosis.
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Four-year-old boy with Werdnig-Hoffmann disease (...

Four-year-old boy with Werdnig-Hoffmann disease (a type of spinal muscular atrophy). A chest radiograph reveals the presence of significant 32º left thoracic scoliosis.

More on Rehabilitation Management of Neuromuscular Disease

References
Further Reading
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References

  1. Lev N, Ickowicz D, Barhum Y, et al. DJ-1 Changes in G93A-SOD1 Transgenic Mice: Implications for Oxidative Stress in ALS. J Mol Neurosci. Aug 19 2008;[Medline].

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

  3. [Best Evidence] Benatar M, Kurent J, Moore DH. Treatment for familial amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. Jan 21 2009;CD006153. [Medline].

  4. Chance PF, Matsunami N, Lensch W, et al. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Neurology. Oct 1992;42(10):2037-41. [Medline].

  5. Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. Jan 15 1993;72(1):143-51. [Medline].

  6. Street VA, Meekins G, Lipe HP, et al. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. Neuromuscul Disord. Oct 2002;12(7-8):643-50. [Medline].

  7. Al-Thihli K, Rudkin T, Carson N, et al. Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Am J Med Genet A. Sep 15 2008;146A(18):2412-6. [Medline].

  8. Fu YH, Friedman DL, Richards S, et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science. Apr 9 1993;260(5105):235-8. [Medline].

  9. Matsumura K, Tome FM, Collin H, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature. Sep 24 1992;359(6393):320-2. [Medline].

  10. Carter GT. Phrenic nerve involvement in Charcot-Marie-Tooth. Muscle Nerve. Oct 1995;18(10):1215-6. [Medline].

  11. Carter GT, Kilmer DD, Bonekat HW, et al. Evaluation of phrenic nerve and pulmonary function in hereditary motor and sensory neuropathy, type I. Muscle Nerve. Apr 1992;15(4):459-62. [Medline].

  12. Carter GT, Johnson ER, Bonekat HW, Lieberman JS. Laryngeal diversion in the treatment of intractable aspiration in motor neuron disease. Arch Phys Med Rehabil. Jul 1992;73(7):680-2. [Medline].

  13. Strand EA, Miller RM, Yorkston KM, Hillel AD. Management of oral-pharyngeal dysphagia symptoms in amyotrophic lateral sclerosis. Dysphagia. Spring 1996;11(2):129-39. [Medline].

  14. Bies RD, Friedman D, Roberts R, et al. Expression and localization of dystrophin in human cardiac Purkinje fibers. Circulation. Jul 1992;86(1):147-53. [Medline].

  15. Backman E, Nylander E. The heart in Duchenne muscular dystrophy: a non-invasive longitudinal study. Eur Heart J. Sep 1992;13(9):1239-44. [Medline].

  16. Carter GT, Jensen MP, Galer BS, et al. Neuropathic pain in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil. Dec 1998;79(12):1560-4. [Medline].

  17. Carter GT, Sullivan MD. Antidepressants in pain management. Curr Opin Investig Drugs. Mar 2002;3(3):454-8. [Medline].

  18. Carter GT, Galer BS. Advances in the management of neuropathic pain. Phys Med Rehabil Clin N Am. May 2001;12(2):447-59. [Medline].

  19. Amtmann D, Weydt P, Johnson KL, et al. Survey of cannabis use in patients with amyotrophic lateral sclerosis. Am J Hosp Palliat Care. Mar-Apr 2004;21(2):95-104. [Medline].

  20. Carter GT, Weydt P. Cannabis: old medicine with new promise for neurological disorders. Curr Opin Investig Drugs. Mar 2002;3(3):437-40. [Medline].

  21. Carter GT, Weydt P, Kyashna-Tocha M, Abrams DI. Medicinal cannabis: rational guidelines for dosing. IDrugs. May 2004;7(5):464-70.

  22. Carter GT, Rosen BS. Marijuana in the management of amyotrophic lateral sclerosis. Am J Hosp Palliat Care. Jul-Aug 2001;18(4):264-70. [Medline].

  23. Carter GT, Ugalde V. Medical marijuana: emerging applications for the management of neurologic disorders. Phys Med Rehabil Clin N Am. Nov 2004;15(4):943-54, ix.

  24. Bensimon G, Lacomblez L, Meininger V. A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group. N Engl J Med. Mar 3 1994;330(9):585-91. [Medline].

  25. Backman E, Henriksson KG. Low-dose prednisolone treatment in Duchenne and Becker muscular dystrophy. Neuromuscul Disord. May 1995;5(3):233-41. [Medline].

  26. Fowler EG, Graves MC, Wetzel GT, Spencer MJ. Pilot trial of albuterol in Duchenne and Becker muscular dystrophy. Neurology. Mar 23 2004;62(6):1006-8.

  27. van der Kooi EL, Vogels OJ, van Asseldonk RJ, et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology. Aug 24 2004;63(4):702-8.

  28. Carter GT, Wineinger MA, Walsh SA, et al. Effect of voluntary wheel-running exercise on muscles of the mdx mouse. Neuromuscul Disord. Jul 1995;5(4):323-32. [Medline].

  29. Carter GT, Longley KJ, Entrikin RK. Electromyographic and nerve conduction studies in the mdx mouse. Am J Phys Med Rehabil. Feb 1992;71(1):2-5. [Medline].

  30. Han JJ, Carter GT, Ra JJ. Electromyographic studies in mdx and wild-type C57 mice. Muscle Nerve. 2006;33:208-214.

  31. Sharma KR, Kent-Braun JA, Majumdar S, et al. Physiology of fatigue in amyotrophic lateral sclerosis. Neurology. Apr 1995;45(4):733-40. [Medline].

  32. Lord J, Behrman B, Varzos N, et al. Scoliosis associated with Duchenne muscular dystrophy. Arch Phys Med Rehabil. Jan 1990;71(1):13-7. [Medline].

  33. Cambridge W, Drennan JC. Scoliosis associated with Duchenne muscular dystrophy. J Pediatr Orthop. Jul-Aug 1987;7(4):436-40. [Medline].

  34. 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].

  35. Vignola A, Guzzo A, Calvo A, et al. Anxiety undermines quality of life in ALS patients and caregivers. Eur J Neurol. Nov 2008;15(11):1231-6. [Medline].

  36. Steele M, Taylor E, Young C, et al. Mental health of children and adolescents with Duchenne muscular dystrophy. Dev Med Child Neurol. Aug 2008;50(8):638-9. [Medline].

  37. Lamb C, Peden A. Understanding the experience of living with spinal muscular atrophy: a qualitative description. J Neurosci Nurs. Aug 2008;40(4):250-6. [Medline].

  38. Abresch RT, Carter GT, Jensen MP, Kilmer DD. Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. Am J Hosp Palliat Care. Jan-Feb 2002;19(1):39-48. [Medline].

  39. Abresch RT, Jensen MP, Carter GT. Health-related quality of life in peripheral neuropathy. Phys Med Rehabil Clin N Am. May 2001;12(2):461-72. [Medline].

  40. Aitkens S, Lord J, Bernauer E, et al. Relationship of manual muscle testing to objective strength measurements. Muscle Nerve. Mar 1989;12(3):173-7. [Medline].

  41. Aitkens SG, McCrory MA, Kilmer DD, Bernauer EM. Moderate resistance exercise program: its effect in slowly progressive neuromuscular disease. Arch Phys Med Rehabil. Jul 1993;74(7):711-5. [Medline].

  42. Bach JR. Amyotrophic lateral sclerosis. Communication status and survival with ventilatory support. Am J Phys Med Rehabil. Dec 1993;72(6):343-9. [Medline].

  43. Bach JR. Amyotrophic lateral sclerosis: predictors for prolongation of life by noninvasive respiratory aids. Arch Phys Med Rehabil. Sep 1995;76(9):828-32. [Medline].

  44. Bach JR, McKeon J. Orthopedic surgery and rehabilitation for the prolongation of brace- free ambulation of patients with Duchenne muscular dystrophy. Am J Phys Med Rehabil. Dec 1991;70(6):323-31. [Medline].

  45. Brooke MH, Griggs RC, Mendell JR, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. May-Jun 1981;4(3):186-97. [Medline].

  46. Carter G, Morris GM, Stolick M, Hentz P. Case study: when should the scope of care extend beyond the patient?. Am J Hosp Palliat Care. Jul-Aug 2004;21(4):294-6. [Medline].

  47. Carter GT. Neuromuscular disorders. In: Dell Orto AE, Marinelli RP, eds. Encyclopedia of Disability and Rehabilitation. NY:. Simon & Schuster;1995:509-515.

  48. Carter GT. Rehabilitation Management of Peripheral Neuropathy. Semin Neurol. 2005;25:229-237.

  49. Carter GT, Abresch RT, Fowler WM. Adaptations to exercise training and contraction-induced muscle injury in animal models of muscular dystrophy. Am J Phys Med Rehabil. Nov 2002;81(11 Suppl):S151-61. [Medline].

  50. Carter GT, Abresch RT, Fowler WM Jr, et al. Profiles of neuromuscular diseases. Hereditary motor and sensory neuropathy, types I and II. Am J Phys Med Rehabil. Sep-Oct 1995;74(5 Suppl):S140-9. [Medline].

  51. Carter GT, Abresch RT, Fowler WM Jr, et al. Profiles of neuromuscular diseases. Spinal muscular atrophy. Am J Phys Med Rehabil. Sep-Oct 1995;74(5 Suppl):S150-9. [Medline].

  52. Carter GT, Bednar-Butler LM, Abresch RT, Ugalde VO. Expanding the role of hospice care in amyotrophic lateral sclerosis. Am J Hosp Palliat Care. Nov 1999;16(6):707-10.

  53. Carter GT, Bird TD. Facioscapulohumeral muscular dystrophy presenting as respiratory failure. Neurology. 2005;64:401.

  54. Carter GT, Bonekat HW, Milio L. Successful pregnancies in the presence of spinal muscular atrophy: two case reports. Arch Phys Med Rehabil. Feb 1994;75(2):229-31. [Medline].

  55. Carter GT, England JD, Chance PF. Charcot-Marie-Tooth disease: electrophysiology, molecular genetics and clinical management. IDrugs. Feb 2004;7(2):151-9.

  56. Carter GT, England JD, Hecht TW, et al. Electrodiagnostic evaluation of hereditary motor and sensory neuropathies. Phys Med Rehabil Clin N Am. May 2003;14(2):347-63, ix-x. [Medline].

  57. Carter GT, Kikuchi N, Abresch RT, et al. Effects of exhaustive concentric and eccentric exercise on murine skeletal muscle. Arch Phys Med Rehabil. May 1994;75(5):555-9. [Medline].

  58. Carter GT, Kikuchi N, Horasek SJ, Walsh SA. The use of fluorescent dextrans as a marker of sarcolemmal injury. Histol Histopathol. Jul 1994;9(3):443-7. [Medline].

  59. Carter GT, Kilmer DD, Szabo RM. Focal posterior interosseous neuropathy in the presence of hereditary motor and sensory neuropathy, type I. Muscle Nerve. May 1996;19(5):644-8. [Medline].

  60. Carter GT, Krivickas LS, Weydt P, et al. Drug therapy for amyotrophic lateral sclerosis: Where are we now?. IDrugs. Feb 2003;6(2):147-53. [Medline].

  61. Carter GT, Longley KJ, Walsh SA, Entrikin RK. Lack of effect of amitriptyline in murine myotonia. Am J Phys Med Rehabil. Oct 1992;71(5):279-82. [Medline].

  62. Carter GT, McDonald CM. Preserving function in Duchenne dystrophy with long-term pulse prednisone therapy. Am J Phys Med Rehabil. Sep-Oct 2000;79(5):455-8. [Medline].

  63. Carter GT, Miller RG. Comprehensive management of amyotrophic lateral sclerosis. Phys Med Rehabil Clin N Am. Feb 1998;9(1):271-84, viii-ix. [Medline].

  64. Chance PF, Ashizawa T, Hoffman EP, Crawford TO. Molecular basis of neuromuscular diseases. Phys Med Rehabil Clin N Am. Feb 1998;9(1):49-81, vi. [Medline].

  65. Colbert AP, Craig C. Scoliosis management in Duchenne muscular dystrophy: prospective study of modified Jewett hyperextension brace. Arch Phys Med Rehabil. May 1987;68(5 Pt 1):302-4. [Medline].

  66. D''Orsogna L, O''Shea JP, Miller G. Cardiomyopathy of Duchenne muscular dystrophy. Pediatr Cardiol. 1988;9(4):205-13. [Medline].

  67. de Lateur BJ, Giaconi RM. Effect on maximal strength of submaximal exercise in Duchenne muscular dystrophy. Am J Phys Med. Feb 1979;58(1):26-36. [Medline].

  68. Eisen A. Amyotrophic lateral sclerosis is a multifactorial disease. Muscle Nerve. Jul 1995;18(7):741-52. [Medline].

  69. England JD, Gronseth GS, Franklin G. Distal symmetrical polyneuropathy: Definition for clinical research. Muscle Nerve. 11 9 2004.

  70. Fowler WM Jr, Abresch RT, Aitkens S, et al. Profiles of neuromuscular diseases. Design of the protocol. Am J Phys Med Rehabil. Sep-Oct 1995;74(5 Suppl):S62-9. [Medline].

  71. Fritz RC, Domroese ME, Carter GT. Physiological and anatomical basis of muscle magnetic resonance imaging. Phys Med Rehabil Clin N Am. 2005;16:1033-1051.

  72. Fukunaga H, Okubo R, Moritoyo T, et al. Long-term follow-up of patients with Duchenne muscular dystrophy receiving ventilatory support. Muscle Nerve. May 1993;16(5):554-8. [Medline].

  73. Griggs RC, Donohoe KM, Utell MJ, et al. Evaluation of pulmonary function in neuromuscular disease. Arch Neurol. Jan 1981;38(1):9-12. [Medline].

  74. Han JJ, Carter GT, Weiss MD. Using electromyography to assess function in humans and animal models of muscular dystrophy. Phys Med Rehabil Clin N Am. 2005;16:981-997.

  75. Hodapp JA, Carter GT, Lipe HP. Double trouble in hereditary neuropathy: concommitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol. 2006;63:112-117.

  76. Hoffman AJ, Jensen MP, Abresch RT. Chronic pain in persons with neuromuscular disorders. Phys Med Rehabil Clin N Am. 2005;16:1009-1112.

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

  78. Hsu JD. The natural history of spine curvature progression in the nonambulatory Duchenne muscular dystrophy patient. Spine. Oct 1983;8(7):771-5. [Medline].

  79. Ionasescu VV. Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve. Mar 1995;18(3):267-75. [Medline].

  80. Jaffe KM, McDonald CM, Ingman E, Haas J. Symptoms of upper gastrointestinal dysfunction in Duchenne muscular dystrophy: case-control study. Arch Phys Med Rehabil. Sep 1990;71(10):742-4. [Medline].

  81. Jenkins JG, Bohn D, Edmonds JF, et al. Evaluation of pulmonary function in muscular dystrophy patients requiring spinal surgery. Crit Care Med. Oct 1982;10(10):645-9. [Medline].

  82. Jensen MP, Abresch RT, Carter GT. The reliability and validity of a self-reported version of the functional independence measure in persons with neuromuscular disease and chronic pain. Arch Phys Med Rehabil. 2005;86:116-122.

  83. Jensen MP, Carter GT, Abresch RT. Chronic pain in persons with neuromuscular disorders. Arch Phys Med Rehabil. 2005;86:1155-1163.

  84. Johnson ER, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases. Myotonic dystrophy. Am J Phys Med Rehabil. Sep-Oct 1995;74(5 Suppl):S104-16. [Medline].

  85. Johnson EW, Yarnell SK. Hand dominance and scoliosis in Duchenne muscular dystrophy. Arch Phys Med Rehabil. Oct 1976;57(10):462-4. [Medline].

  86. Kawashima S, Ueno M, Kondo T, et al. Marked cardiac involvement in limb-girdle muscular dystrophy. Am J Med Sci. Jun 1990;299(6):411-4. [Medline].

  87. Kilmer DD. Response to aerobic exercise training in humans with neuromuscular disease. Am J Phys Med Rehabil. Nov 2002;81(11 Suppl):S148-50. [Medline].

  88. Kilmer DD. Response to resistive strengthening exercise training in humans with neuromuscular disease. Am J Phys Med Rehabil. Nov 2002;81(11 Suppl):S121-6. [Medline].

  89. Kilmer DD, Abresch RT, Fowler WM Jr. Serial manual muscle testing in Duchenne muscular dystrophy. Arch Phys Med Rehabil. Nov 1993;74(11):1168-71. [Medline].

  90. Kilmer DD, Abresch RT, McCrory MA, et al. Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil. Sep-Oct 1995;74(5 Suppl):S131-9. [Medline].

  91. Kilmer DD, McCrory MA, Wright NC, et al. The effect of a high resistance exercise program in slowly progressive neuromuscular disease. Arch Phys Med Rehabil. May 1994;75(5):560-3. [Medline].

  92. Kurz LT, Mubarak SJ, Schultz P, et al. Correlation of scoliosis and pulmonary function in Duchenne muscular dystrophy. J Pediatr Orthop. Jul 1983;3(3):347-53. [Medline].

  93. Lindeman E, Leffers P, Spaans F, et al. Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial. Arch Phys Med Rehabil. Jul 1995;76(7):612-20. [Medline].

  94. Liu J, Lissens W, Van Broeckhoven C, et al. Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion. Prenat Diagn. Apr 1995;15(4):351-8. [Medline].

  95. Lord JP, Portwood MM, Lieberman JS, et al. Upper extremity functional rating for patients with Duchenne muscular dystrophy. Arch Phys Med Rehabil. Mar 1987;68(3):151-4. [Medline].

  96. MacKenzie AE, Jacob P, Surh L, Besner A. Genetic heterogeneity in spinal muscular atrophy: a linkage analysis- based assessment. Neurology. May 1994;44(5):919-24. [Medline].

  97. Manzur AY, Hyde SA, Rodillo E, et al. A randomized controlled trial of early surgery in Duchenne muscular dystrophy. Neuromuscul Disord. 1992;2(5-6):379-87. [Medline].

  98. Marsh GG, Munsat TL. Evidence of early impairment of verbal intelligence in Duchenne muscular dystrophy. Arch Dis Child. Feb 1974;49(2):118-22. [Medline].

  99. Matsumura K, Campbell KP. Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies. Muscle Nerve. Jan 1994;17(1):2-15. [Medline].

  100. McDonald CM, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases. Becker''s muscular dystrophy. Am J Phys Med Rehabil. Sep-Oct 1995;74(5 Suppl):S93-103. [Medline].

  101. McDonald CM, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases. Duchenne muscular dystrophy. Am J Phys Med Rehabil. Sep-Oct 1995;74(5 Suppl):S70-92. [Medline].

  102. McDonald CM, Carter GT, Abresch RT. Body Composition in Duchenne Dystrophy using Impedance Analysis and Dual X-ray Absorptiometry. Am J Phys Med Rehabil. 2005;84:483-491.

  103. McDonald CM, Carter GT, Fritz RC, et al. Magnetic resonance imaging of denervated muscle: comparison to electromyography. Muscle Nerve. Sep 2000;23(9):1431-4. [Medline].

  104. McDonald CM, Johnson ER, Abresch RT, et al. Profiles of neuromuscular diseases. Limb-girdle syndromes. Am J Phys Med Rehabil. Sep-Oct 1995;74(5 Suppl):S117-30. [Medline].

  105. Miller RG, Petajan JH, Bryan WW, et al. A placebo-controlled trial of recombinant human ciliary neurotrophic (rhCNTF) factor in amyotrophic lateral sclerosis. rhCNTF ALS Study Group. Ann Neurol. Feb 1996;39(2):256-60. [Medline].

  106. Mitsumoto H, Norris FH. Amyotrophic Lateral Sclerosis: A Comprehensive Guide to Management. NY:. Demos Vermande;1994.

  107. Norris F, Shepherd R, Denys E, et al. Onset, natural history and outcome in idiopathic adult motor neuron disease. J Neurol Sci. Aug 1993;118(1):48-55. [Medline].

  108. Oda T, Shimizu N, Yonenobu K, et al. Longitudinal study of spinal deformity in Duchenne muscular dystrophy. J Pediatr Orthop. Jul-Aug 1993;13(4):478-88. [Medline].

  109. Pecak F, Trontelj JV, Dimitrijevic MR. Scoliosis in neuromuscular disorders. Int Orthop. 1980;3(4):323-8. [Medline].

  110. Rideau Y, Jankowski LW, Grellet J. Respiratory function in the muscular dystrophies. Muscle Nerve. Mar-Apr 1981;4(2):155-64. [Medline].

  111. Ringel SP, Murphy JR, Alderson MK, et al. The natural history of amyotrophic lateral sclerosis. Neurology. Jul 1993;43(7):1316-22. [Medline].

  112. Rodillo EB, Fernandez-Bermejo E, Heckmatt JZ, Dubowitz VA. Prevention of rapidly progressive scoliosis in Duchenne muscular dystrophy by prolongation of walking with orthoses. J Child Neurol. Oct 1988;3(4):269-74. [Medline].

  113. Rose MR, Tawil R. Drug treatment for facioscapulohumeral muscular dystrophy. Cochrane Database Syst Rev. 2004;CD002276.

  114. Sakai DN, Hsu JD, Bonnett CA, Brown JC. Stabilization of the collapsing spine in duchenne muscular dystrophy. Clin Orthop. Oct 1977;(128):256-60. [Medline].

  115. Seeger BR, Sutherland AD, Clark MS. Orthotic management of scoliosis in Duchenne muscular dystrophy. Arch Phys Med Rehabil. Feb 1984;65(2):83-6. [Medline].

  116. Smith AD, Koreska J, Moseley CF. Progression of scoliosis in Duchenne muscular dystrophy. J Bone Joint Surg Am. Aug 1989;71(7):1066-74. [Medline].

  117. Stern LM, Clark BE. Investigation of scoliosis in Duchenne dystrophy using computerized tomography. Muscle Nerve. Jul 1988;11(7):775-83. [Medline].

  118. Tysnes OB, Vollset SE, Larsen JP, Aarli JA. Prognostic factors and survival in amyotrophic lateral sclerosis. Neuroepidemiology. 1994;13(5):226-35. [Medline].

  119. Vignos PJ. Management of musculoskeletal complications in neuromuscular disease: limb contractures and the role of stretching, braces and surgery. In: Physical Medicine and Rehabilitation: State of the Art Reviews. Vol 2. 1988:509-536.

  120. Weiss MD, Weydt P, Carter GT. Current pharmacological management of amyotrophic [corrected] lateral sclerosis and a role for rational polypharmacy. Expert Opin Pharmacother. Apr 2004;5(4):735-46.

  121. Weydt P, Weiss MD, Moller T, Carter GT. Neuro-inflammation as a therapeutic target in amyotrophic lateral sclerosis. Curr Opin Investig Drugs. Dec 2002;3(12):1720-4. [Medline].

  122. Willig TN, Carlier L, Legrand M, et al. Nutritional assessment in Duchenne muscular dystrophy. Dev Med Child Neurol. Dec 1993;35(12):1074-82. [Medline].

  123. Wohlgemuth M, van der Kooi EL, van Kesteren RG, et al. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology. Jul 13 2004;63(1):176-8.

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Further Reading

Related eMedicine topics:
Amyotrophic Lateral Sclerosis [Emergency Medicine]
Amyotrophic Lateral Sclerosis [Neurology]
Becker Muscular Dystrophy
Charcot-Marie-Tooth and Other Hereditary Motor and Sensory Neuropathies
Charcot-Marie-Tooth Disease
Dystrophinopathies
Facioscapulohumeral Dystrophy
Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type
Limb-Girdle Muscular Dystrophy [Neurology]
Limb-Girdle Muscular Dystrophy [Physical Medicine and Rehabilitation]
Muscular Dystrophy
Spinal Muscle Atrophy
Spinal Muscular Atrophy

Clinical guidelines:
Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. American Academy of Pediatrics - Medical Specialty Society.  2005 Dec.  5 pages.  NGC:004714

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. An evidence-based review with good practice points. European Federation of Neurological Societies - Medical Specialty Society.  2005 Dec.  18 pages.  NGC:005168

Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. American Academy of Neurology - Medical Specialty Society.  2005 Jan.  8 pages.  NGC:004041

Clinical trials:
 CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I

Cortex Changes in Real/Imagined Movements in Amyotrophic Lateral Sclerosis (ALS)

Genetics of ALS: Identification of Genes With Roles in Familial and Sporadic Amyotrophic Lateral Sclerosis (ALS) and Amyotrophic Lateral Sclerosis (ALS) With Frontotemporal Dementia (FALS)

Noninvasive Examination of the Work of Breathing in Patients With Amyotrophic Lateral Sclerosis (ALS)

Ramipril Versus Carvedilol in Duchenne and Becker Patients

Test-Retest Reliability of Pulmonary Function Tests in Patients With Duchenne's Muscular Dystrophy

Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy (VALIANT SMA)

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Keywords

neuromuscular disease, NMD, neuromuscular disorder, muscular dystrophy, Duchenne muscular dystrophy, Becker muscular dystrophy, limb-girdle muscular dystrophy, LGMD, BMD, DMD, muscular dystrophy rehabilitation, amyotrophic lateral sclerosis, ALS, Lou Gehrig disease, Lou Gehrig's disease, spinal muscular atrophy, SMA, SMA I, SMA II, SMA III, Charcot-Marie-Tooth disease, CMT, CMT1, CMT2, facioscapulohumeral muscular dystrophy, FSHD, motor neuron disease, peripheral neuropathies, myopathy, Werdnig-Hoffmann disease

acute infantile-onset SMA, early onset intermediate SMA, Kugelberg-Welander disease, spinobulbar muscular atrophy, SBMA, Kennedy disease, bulbar muscular atrophy, myotonic muscular dystrophy, MMD, congenital MMD, MMD2, primary axonal neuropathy, primary demyelinating neuropathy, proximal myotonic myopathy, restrictive lung disease, laryngeal diversion, dysphagia, dysarthria, dystrophinopathy, bracing, long-leg brace, ankle-foot orthosis, short-leg brace, reactive clinical depression

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Contributor Information and Disclosures

Author

Gregory T Carter, MD, MS, Clinical Professor of Rehabilitation Medicine, University of Washington School of Medicine; Medical Director, Muscular Dystrophy Association Clinics, Seattle and Olympia, WA
Gregory T Carter, MD, MS is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine, and Association of Academic Physiatrists
Disclosure: Nothing to disclose.

Medical Editor

Teresa L Massagli, MD, Residency Director, Professor, Department of Rehabilitation Medicine and Pediatrics, University of Washington School of Medicine
Teresa L Massagli, MD is a member of the following medical societies: American Academy of Pediatrics, American Academy of Physical Medicine and Rehabilitation, and Association of Academic Physiatrists
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Richard Salcido, MD, Chairman, Erdman Professor of Rehabilitation, Department of Physical Medicine and Rehabilitation, University of Pennsylvania School of Medicine
Richard Salcido, MD is a member of the following medical societies: American Academy of Pain Medicine, American Academy of Physical Medicine and Rehabilitation, American College of Physician Executives, American Medical Association, and American Paraplegia Society
Disclosure: Nothing to disclose.

CME Editor

Kelly L Allen, MD, Regional Medical Director, IMX-Medical Management Services
Disclosure: Nothing to disclose.

Chief Editor

Consuelo T Lorenzo, MD, Consulting Staff, Department of Physical Medicine and Rehabilitation, Alegent Health Care, Immanuel Rehabilitation Center
Consuelo T Lorenzo, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation
Disclosure: Nothing to disclose.

 
 
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