Facioscapulohumeral Dystrophy Clinical Presentation

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

Physical

  • Initial weakness is seen in facial muscles, starting in the orbicularis oculi, orbicularis oris, and zygomaticus.
    • Patients may have difficulty with labial sounds, whistling, or drinking through a straw.
    • Weakness may be asymmetric.
    • Extraocular and pharyngeal muscles are spared.
  • Shoulder weakness is the presenting symptom in more than 82% of patients with symptoms.
    • Scapular fixation is weak from the onset. Winging of the scapula is the most characteristic sign. The scapula is placed more laterally than normal. It moves upwards in shoulder abduction.
    • The deltoid muscle usually is spared, and shoulder abduction weakness is predominantly due to weak scapula fixation.
    • If the scapula is stabilized manually against the chest wall, the patient may experience improved movement. Upward slope of the anterior axillary fold results from weakness of the pectoralis major.
  • Truncal weakness is early. Lower abdominal muscles are weaker than upper abdominal muscles, resulting in the Beevor sign, a physical finding very specific for FSHD. The Beevor sign is the upward movement of the umbilicus toward the head when flexing the neck.
  • Weakness of foot dorsiflexion follows shoulder weakness.
    • Tibialis anterior muscle weakness is highly characteristic, whereas posterior muscles of the leg are spared.
    • In a few patients, a foot-drop gait is the presenting complaint. In more than 50% of patients, the pelvic girdle muscles are never involved.
  • Atypical phenotypes in patients with FSHD
    • Scapulohumeral dystrophy (SHD) or facial-sparing SHD with or without myalgia
    • FSHD with chronic progressive external ophthalmoplegia (CPEO)
    • Limb-girdle muscular dystrophy syndrome
    • Distal myopathy
    • Asymmetric brachial weakness
  • Extramuscular manifestations are as follows:
    • High-frequency hearing loss in almost 75%
    • Retinal telangiectasias in about 60%
    • Atrial arrhythmias in 5%
    • Restrictive respiratory disease in 1%
    • Mental retardation
    • Seizures
    • Sleep-disordered breathing (SDB) is very common in FSHD. Obstructive sleep apnea, REM-related oxygen desaturation, or mixed pattern were observed in 39% of FSHD patients. SDB is not related to severity of the disease.[2]
Proceed to Differential Diagnoses
 
 
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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