Facioscapulohumeral Dystrophy Follow-up

  • Author: Naganand Sripathi, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Feb 3, 2010
 

Complications

  • Coats syndrome: This syndrome, a retinal vasculopathy with telangiectasia, exudation, and retinal detachment, is seen in 49-75% of affected individuals. If detected early, retinal photocoagulation may prevent serious consequences.
  • Hearing loss: Sensorineural deafness is observed in 64% of patients; it may be unilateral.
  • Mental impairment and epilepsy: These are seen in the early onset group. Mental retardation is observed in about 40% of patients with early onset 4q35-FSHD. Epilepsy also is observed often in this subset of patients.
  • Labile hypertension
  • Cardiac complications: Atrial arrest, bundle branch block, and dilated cardiomyopathy have been reported.
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Prognosis

  • Size of deletion affects disease severity and thus prognosis. Ricci studied 122 Italian families affected by FSHD and 230 healthy control subjects. An Eco RI fragment shorter than 30 kb that was resistant to Bln I restriction was found in 114 of 122 families (93%) with FSHD. Fifteen percent of the control group showed Eco RI fragments smaller than 30 kb that were Bln I sensitive, suggesting that these were 10 qter alleles. Prognosis varied with the length of the fragment size and the remaining Kpn I units.[7] The probabilities of developing the severe form of the disease were as follows:
    • 100% with very short segment length of 10-13 kb (1-2 Knp I repeats left)
    • 54% in patients with fragment length of 16-20 kb (3-4 Knp I repeats left)
    • 19% in patients with fragment length greater than 21 kb (more than 4 Knp I repeats left)
  • Age of onset is variable. The disease tends to progress from the face downwards. Asymmetry and selective muscle group involvement distinguish FSHD from other muscular dystrophies. Many authors describe stepwise deterioration with prolonged periods of apparent arrest. Extraocular muscles, bulbar muscles, deltoids, and respiratory muscles usually are spared. Ventilatory impairment is seen in fewer than 10% of patients.
  • Approximately 20% of patients may require wheelchair assistance.
  • Life expectancy is normal in most patients.
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Contributor Information and Disclosures
Author

Naganand Sripathi, MD  Director, Neuromuscular Clinic, Department of Neurology, Henry Ford Hospital

Naganand Sripathi, MD is a member of the following medical societies: American Academy of Neurology, American Medical Association, Michigan State Medical Society, and New York Academy of Sciences

Disclosure: Nothing to disclose.

Specialty Editor Board

James J Riviello Jr, MD  George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital

James J Riviello Jr, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Kenneth J Mack, MD, PhD  Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD  Assistant Professor, Department of Pediatrics, Division of Pediatric Neurology, Department of Neurology, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

References

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  15. Laoudj-Chenivesse D, Carnac G, Bisbal C, et al. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med. Mar 2005;83(3):216-24. [Medline].

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  17. Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet. Jul 1 2009;18(13):2414-30. [Medline].

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  19. Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol. Jun 1996;39(6):744-8. [Medline].

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  22. Winokur ST, Barrett K, Martin JH, et al. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord. May 2003;13(4):322-33. [Medline].

  23. Wuebbles RD, Hanel ML, Jones PL. FSHD region gene 1 (FRG1) is crucuial for angiogenesis linkinh FRG! to facioscapulohumeral muscular dystrophy-associated vasculopathy. Dis Model Mech. May-Jun 2009;2(5-6):267-274.

 
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