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