eMedicine Specialties > Neurology > Pediatric Neurology

Facioscapulohumeral Dystrophy: Follow-up

Author: Naganand Sripathi, MD, Director, Neuromuscular Clinic, Department of Neurology, Henry Ford Hospital
Contributor Information and Disclosures

Updated: Feb 23, 2007

Follow-up

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.

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. 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.
 


More on Facioscapulohumeral Dystrophy

Overview: Facioscapulohumeral Dystrophy
Differential Diagnoses & Workup: Facioscapulohumeral Dystrophy
Treatment & Medication: Facioscapulohumeral Dystrophy
Follow-up: Facioscapulohumeral Dystrophy
References
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References

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  2. Faustmann PM, Farahati J, Rupilius B, et al. Cardiac involvement in facio-scapulo-humeral muscular dystrophy: a family study using Thallium-201 single-photon-emission-computed tomography. J Neurol Sci. Dec 1996;144(1-2):59-63. [Medline].

  3. Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology. Jun 1998;50(6):1791-4. [Medline].

  4. Gilchrist JM. Other muscular dystrophies. In: Gilchrist JM, ed. Prognosis in Neurology. Butterworth-Heinemann;1998:347-9.

  5. Griggs RC, Mendell JR, Miller RG. The muscular dystrophies. In: Evaluation and Treatment of Myopathies. Philadelphia: FA Davis Co;1995:122-8.

  6. Kissel JT, McDermott MP, Natarajan R, et al. Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology. May 1998;50(5):1402-6. [Medline].

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  13. 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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Further Reading

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Keywords

FSHD, muscular dystrophy, Eco RI digestion fragment, Eco RI restriction enzyme, DUX1 protein, adenine nucleotide translocator 1 protein, scapulohumeral dystrophy, SHD, facial-sparing SHD with or without myalgia, chronic progressive external ophthalmoplegia, CPEO, limb-girdle muscular dystrophy syndrome, distal myopathy, asymmetric brachial weakness

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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.

Medical Editor

James J Riviello Jr, MD, Professor of Pediatrics, Division of Neurology, Baylor College of Medicine; Chief of Neurophysiology, 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.

Pharmacy Editor

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

Managing Editor

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.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

 
 
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