What are AAN and AANEM joint treatment guidelines for facioscapulohumeral muscular dystrophy (FSHD)?

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Answer

There were no recommendations given a level A rating denoting that in almost all circumstances, adherence to the recommendation will improve health-related outcomes. Level B and C recommendations included the following [75] :

  • Obtain genetic confirmation of FSHD1 in patients with atypical presentations and no first-degree relatives with genetic confirmation of the disease (level B)
  • Patients with large D4Z4 deletion sizes (contracted D4Z4 allele of 10–20 kb) are more likely to develop more significant disability and at an earlier age as well as symptomatic extramuscular manifestations (level B)
  • Obtain baseline pulmonary function tests (PFT); monitor regularly in patients with abnormal baseline PFT results or any combination of severe proximal weakness, kyphoscoliosis, wheelchair dependence, or comorbid conditions that may affect ventilation (eg, chronic obstructive pulmonary disease, cardiac disease) (level B)
  • Refer patients with compromised PFT results (eg, forced vital capacity [FVC] <60%) or symptoms of excessive daytime somnolence or nonrestorative sleep (eg, frequent nocturnal arousals, morning headaches) for pulmonary or sleep medicine consultation, for consideration of nocturnal sleep monitoring or nocturnal non-invasive ventilation, to improve quality of life (level B)
  • Patients who do not receive regular PFT should be tested prior to surgical procedures requiring general anesthesia, as such testing may uncover asymptomatic respiratory compromise (level B)
  • Refer patients who develop overt signs or symptoms of cardiac disease (eg, shortness of breath, chest pain, palpitations) for cardiac evaluation; routine cardiac screening is not essential in the absence of cardiac signs or symptoms (level C)
  • Refer patients with large deletions (contracted D4Z4 allele of 10-20 kb) to an experienced ophthalmologist (eg, retina specialist) for dilated indirect ophthalmoscopy (level B)
  • The presence and severity of retinal vascular disease at initial screening should be used to determine the frequency of subsequent monitoring (level B)
  • Screen all young children for hearing loss at diagnosis and yearly thereafter until these children start school; hearing loss may not be present at diagnosis and can be progressive (level B)
  • Treating physicians should routinely inquire about pain; referral for a physical therapy evaluation may prove helpful as an initial nonpharmacologic intervention; in patients with persistent pain and no contraindications, a trial of nonsteroidal anti-inflammatory medications is appropriate for acute pain, and antidepressants or antiepileptics for chronic pain (level B)
  • Albuterol, a corticosteroid, or diltiazem should not be prescribed for improving strength (level B)
  • Surgical scapular fixation might be offered cautiously to selected patients after careful consideration of the overall muscle impairment in the involved arm, assessment of potential gain in range of motion by manual fixation of the scapula, the rate of disease progression, and the potential adverse consequences of surgery and prolonged postsurgical bracing (level C)
  • Clinicians might encourage low-intensity aerobic exercise; an experienced physical therapist can help guide development of individualized exercise programs; clinicians might also use the practical physical activities guidelines for individuals with disabilities provided by the US Department of Health and Human Services when counseling patients about aerobic exercise (level C)
  • Patients interested in strength training may be referred to physical therapists to establish a safe exercise program using appropriate low/medium weights/resistance that takes into consideration the patients' physical limitations (level C)

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