Facioscapulohumeral Muscular

Dystrophy
By: Abby and Michael
What is Facioscapulohumeral Muscular Dystrophy?
● A genetic muscle disorder most often affecting the face,
shoulder blades, and upper arms
● Muscular dystrophy means progressive muscle degeneration
with increasing weakness and atrophy of the muscles
● Symptoms include weakness and atrophy of the muscles
around the eyes, mouth, shoulders, abdominal muscles, upper
arms, and lower legs, usually with asymmetric involvement
● Typically symptoms begin before age 20
● Infantile-onset FSHD is more rare, and may also impact the
development of hearing and vision
● Typically have normal life span, but degree of disability varies
greatly
How Chromatin Plays into It
● Contraction of D4Z4 repeat array in
chromosome 4 (under 10 repeats in
affected individual)

● Causes Chromatin to be relaxed, and

expressing DUX4 retrogene more

● Genes regulated by DUX4 suggest several

mechanisms for muscle damage
Diagnosis
● Clinical Examination, Physical Conditions,
Genetic Testing

● Elevated Serum Creatine Kinase in blood

sample

● Electromyography of muscles at rest and

contraction

● Genetic testing of D4Z4 region of

chromosome 4 to confirm diagnosis (fewer
than 10 repeats)
Treatment
● There are currently no treatments that can halt/reverse
the effects of FSHD, but there are treatments and
devices to manage symptoms
● NSAIDs, antidepressants, and antiepileptics are often
prescribed for pain management
● Surgical procedures attaching patients’ shoulder blades
to their ribs may give greater functionality to their
arms, although it decreases the arm’s range of motion
● Orthoses such as back supports, corsets, girdles, and
special bras can be used to help compensate for
weakening back muscles
Sources
https://rarediseases.org/rare-diseases/facioscapulohumeral-muscular-dystrophy/
https://pubmed.ncbi.nlm.nih.gov/22892954/
https://www.mda.org/disease/facioscapulohumeral-muscular-dystrophy
https://academic.oup.com/hmg/article/12/suppl_2/R207/620417