eMedicine Specialties > Physical Medicine and Rehabilitation > Disorders of the Motor Unit

Kugelberg Welander Spinal Muscular Atrophy: Follow-up

Author: Joyce L Oleszek, MD, Assistant Professor, Department of Physical Medicine and Rehabilitation, University of Colorado at Denver Health Sciences Center, The Children's Hospital of Denver
Coauthor(s): Stephanie E Vallee, MS, Certified Genetic Counselor, Dartmouth-Hitchcock Medical Center, Children's Hospital at Dartmouth; Michael Dichiaro, MD, Chief Resident, Department of Physical Medicine and Rehabilitation, University of Colorado at Denver Health Sciences Center; Mary Louise Caire, MD, Consulting Staff, Department of Physical Medicine and Rehabilitation, Wise Regional Medical Center; Stephen Kishner, MD, Residency Program Director, Professor of Clinical Medicine, Department of Medicine, Section of Physical Medicine and Rehabilitation, Louisiana State University School of Medicine
Contributor Information and Disclosures

Updated: Jul 29, 2008

Follow-up

Further Outpatient Care

  • Patients with spinal muscular atrophy (SMA) should have frequent follow-up care for symptomatic control of their disease. Respiratory function, nutritional state, orthopedic status, and equipment needs should be assessed at each visit. Pain control, preventative medicine, surgical intervention, and physical therapy are all essential parts of the patient's long-term care. The multidisciplinary approach, which includes family members, social workers, therapists, and physicians, is important to assist the patient in maintaining a high quality of life.

Complications

  • Scoliosis
  • Plantar flexion contractures
  • Dysphagia

Prognosis

  • Patients with spinal muscular atrophy experience a progressive loss of motor function that usually affects the legs before it does the arms, and the proximal muscles before the distal ones.
  • Patients who have never climbed stairs without a rail lose walking ability by their midteens. Patients who develop normal walking skills prior to the onset of muscle weakness can maintain this ability until the third or fourth decade.
  • Life expectancy for individuals with SMA type III has been shown to be similar to that of the general population.5
  • See Mortality/Morbidity.
 


More on Kugelberg Welander Spinal Muscular Atrophy

Overview: Kugelberg Welander Spinal Muscular Atrophy
Differential Diagnoses & Workup: Kugelberg Welander Spinal Muscular Atrophy
Treatment & Medication: Kugelberg Welander Spinal Muscular Atrophy
Follow-up: Kugelberg Welander Spinal Muscular Atrophy
References
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References

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  2. Herring JA, ed. Tachdjian's Pediatric Orthopaedics. 4th ed. Philadelphia, Pa: Saunders/Elsevier; 2008.

  3. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. Aug 2007;22(8):1027-49. [Medline].

  4. Russman BS, Buncher CR, White M, et al. Function changes in spinal muscular atrophy II and III. The DCN/SMA Group. Neurology. Oct 1996;47(4):973-6. [Medline].

  5. Zerres K, Rudnik-Schöneborn S, Forrest E, et al. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. Feb 27 1997;146(1):67-72. [Medline].

  6. Ioos C, Leclair-Richard D, Mrad S, et al. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest. Sep 2004;126(3):831-7. [Medline]. [Full Text].

  7. Lin LC, Jong YJ. Pulmonary function assessment in patients with spinal muscular atrophy type II and type III. Acta Paediatr Taiwan. Jan-Feb 2004;45(1):15-8. [Medline].

  8. Muscular Dystrophy Campaign sponsored workshop: recommendation for respiratory care of children with SMA type II and III. Neuromuscular Disord. 2003;13:184-189.

  9. Moosa A, Dubowitz V. Spinal muscular atrophy in childhood. Two clues to clinical diagnosis. Arch Dis Child. May 1973;48(5):386-8. [Medline]. [Full Text].

  10. Simic G. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta Neuropathol. Jul 16 2008;[Medline].

  11. Mattis VB, Bowerman M, Kothary R, et al. A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein. Neurosci Lett. Jun 26 2008;[Medline].

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  13. Wang CC, Chang JG, Ferrance J, et al. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy. Electrophoresis. Jul 2008;29(13):2904-11. [Medline].

  14. Umphred DA, ed. Neurological Rehabilitation. 5th ed. St Louis, Mo: Mosby Elsevier; 2007.

  15. Rodillo E, Marini ML, Heckmatt JZ, et al. Scoliosis in spinal muscular atrophy: review of 63 cases. J Child Neurol. Apr 1989;4(2):118-23. [Medline].

  16. Puruckherr M, Mehta JB, Girish MR, et al. Severe obstructive sleep apnea in a patient with spinal muscle atrophy. Chest. Nov 2004;126(5):1705-7. [Medline]. [Full Text].

  17. Yasuma F, Kuru S, Konagaya M. Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure. Intern Med. Oct 2004;43(10):951-4. [Medline]. [Full Text].

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  20. Il'ina NA, Antipova RI, Khokhlov AP. [Use of lithium carbonate to treat Kugelberg--Welander spinal amyotrophy]. Zh Nevropatol Psikhiatr Im S S Korsakova. 1980;80(11):1657-60. [Medline].

  21. Tzeng AC, Cheng J, Fryczynski H, et al. A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: a preliminary report. Am J Phys Med Rehabil. Sep-Oct 2000;79(5):435-40. [Medline].

  22. Merlini L, Solari A, Vita G, et al. Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study. J Child Neurol. Aug 2003;18(8):537-41. [Medline].

  23. de Groot IJ, de Witte LP. Physical complaints in ageing persons with spinal muscular atrophy. J Rehabil Med. Jul 2005;37(4):258-62. [Medline].

  24. Liveson JA. Peripheral Neurology: Case Studies in Electrodiagnosis. 2nd ed. Philadelphia, Pa: FA Davis; 1991.

  25. Menkes JH. Textbook of Child Neurology. 5th ed. Baltimore, Md: Williams & Wilkins; 1995.

  26. Swaiman KF, Ashwal S, Ferriero DM, eds. Pediatric Neurology: Principles and Practice. 4th ed. Philadelphia, Pa: Mosby; 2006.

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  28. Younger DS, Gordon PH. Diagnosis in neuromuscular diseases. Neurol Clin. Feb 1 1996;14:135-68.

  29. Zeinos M, Sampath J, Cole C, et al. Operative treatment for hip subluxations in spinal muscular atrophy. J Bone Joint Surg. 2005;87-B:1541-4.

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Further Reading

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Keywords

Kugelberg Welander spinal muscular atrophy, Kugelberg-Welander spinal muscular atrophy, Kugelberg Welander disease, Kugelberg-Welander disease, Wohlfart-Kugelberg-Welander syndrome, Wohlfart-Kugelberg-Welander disease, mild spinal muscular atrophy, spinal muscular atrophy, SMA, juvenile types III and IV spinal muscular atrophy, adult-onset spinal muscular atrophy

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Contributor Information and Disclosures

Author

Joyce L Oleszek, MD, Assistant Professor, Department of Physical Medicine and Rehabilitation, University of Colorado at Denver Health Sciences Center, The Children's Hospital of Denver
Joyce L Oleszek, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation
Disclosure: Nothing to disclose.

Coauthor(s)

Stephanie E Vallee, MS, Certified Genetic Counselor, Dartmouth-Hitchcock Medical Center, Children's Hospital at Dartmouth
Disclosure: Nothing to disclose.

Michael Dichiaro, MD, Chief Resident, Department of Physical Medicine and Rehabilitation, University of Colorado at Denver Health Sciences Center
Disclosure: Nothing to disclose.

Mary Louise Caire, MD, Consulting Staff, Department of Physical Medicine and Rehabilitation, Wise Regional Medical Center
Mary Louise Caire, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Stephen Kishner, MD, Residency Program Director, Professor of Clinical Medicine, Department of Medicine, Section of Physical Medicine and Rehabilitation, Louisiana State University School of Medicine
Stephen Kishner, MD is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation and American Association of Neuromuscular and Electrodiagnostic Medicine
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: Nothing to disclose.

Managing Editor

Kat Kolaski, MD, Assistant Professor, Departments of Orthopedic Surgery and Pediatrics, Wake Forest University School of Medicine
Kat Kolaski, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation
Disclosure: Nothing to disclose.

CME Editor

Kelly L Allen, MD, Consulting Staff, Department of Physical Medicine and Rehabilitation, Lourdes Regional Rehabilitation Center, Our Lady of Lourdes Medical Center
Disclosure: Nothing to disclose.

Chief Editor

Denise I Campagnolo, MD, MS, Director of Multiple Sclerosis Clinical Research and Staff Physiatrist, Barrow Neurology Clinics, St. Joseph's Hospital and Medical Center; Investigator for Barrow Neurology Clinics; Director, NARCOMS Project for Consort
Denise I Campagnolo, MD, MS is a member of the following medical societies: Alpha Omega Alpha, American Association of Neuromuscular and Electrodiagnostic Medicine, American Paraplegia Society, Association of Academic Physiatrists, and Consortium of Multiple Sclerosis Centers
Disclosure: Teva Neuroscience Honoraria Speaking and teaching; Serono-Pfizer Honoraria Speaking and teaching

 
 
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