New Guideline for FSHD Diagnosis and Care

The American Academy of Neurology and American Association of Neuromuscular & Electrodiagnostic Medicine have published new recommendations for doctors who see patients with facioscapulohumeral muscular dystrophy
The newly released American Academy of Neurology guideline for facioscapulohumeral muscular dystrophy emphasizes accurate diagnosis, as well as detection and treatment of associated complications.
Article Highlights:
The American Academy of Neurology (AAN) and American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) have published a The guideline emphasizes the use of genetic testing to confirm diagnosis, and treatment of FSHD-associated complications involving breathing, hearing loss and pain. MDA-associated physicians were part of the group convened to develop the new guideline.
by Quest Staff on July 27, 2015 - 12:52pm

The American Academy of Neurology (AAN) and American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM)  have released a guideline for the diagnosis and care of people with facioscapulohumeral muscular dystrophy (FSHD), a genetic muscle disorder in which the muscles of the face, shoulder blades and upper arms are among the most affected.

The guideline is the first-ever, evidence-based guideline to help physicians best manage the care of patients with FSHD.

FSHD onset can occur in infants and adults

FSHD usually begins before age 20, with weakness and atrophy of the muscles around the eyes and mouth, shoulders, upper arms and lower legs. Later, weakness can spread to abdominal muscles and sometimes hip muscles.

There are two types of FSHD, which arise from different genetic causes but have similar symptoms. In either of the two types, facial weakness can start in childhood. Occasionally, other FSHD symptoms appear in early childhood as well.

FSHD that begins in infancy generally runs a more pronounced course with regard to muscle weakness and sometimes also affects hearing and vision.

New guideline is based on best available FSHD studies

Goals for the new guideline are to increase awareness that although cures are not currently available, disease management is important and valuable; to raise awareness of the strong need for further FSHD research; and to increase awareness of the importance of genetic testing for accurate diagnosis.

The new guideline is based on the best available scientific studies on FSHD. It was published online July 27 in Neurology and also is available on the AAN website’s Guideline section.

Key Recommendations of the Guideline address diagnosis and care

Here are some highlights of the recommendations made by the committee.

Evaluation and Diagnosis: A detailed health history, physical examination, and appropriate lab and image testing are useful for diagnosing FSHD. Genetic testing can confirm the diagnosis for a large proportion of patients with FSHD type 1; the options for genetic testing for FSHD type 2 are limited and need to be studied further. There is no cure for FSHD, but providers should be aware of associated problems, including hearing loss (in children), respiratory issues, eye problems and pain.

Management of Complications: Clinicians should obtain genetic confirmation of FSHD1 in patients with atypical presentations of the disease.

  • Orthopedic Surgery: Surgical scapular fixation might be offered cautiously to selected patients after careful consideration of the overall muscle impairment in the involved arm.
  • Respiratory: Early intervention with noninvasive mechanical ventilation leads to improved survival and quality of life.
  • Hearing Loss: Clinicians should screen for hearing loss in all young children with FSHD at diagnosis and yearly thereafter until these children start school.
  • Pain: Treating physicians should routinely inquire about pain in patients with FSHD.

For more information

Be sure to check back at to stay up to date on the latest in FSHD research and information.

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