Facioscapulohumeral
Muscular Dystrophy
Fact Sheet
Facioscapulohumeral muscular dystrophy (FSHD) - answer a genetic
muscle disorder in which the muscles of the face, shoulder blades, and
upper arms are among the most affected
Researchers have described two types of facioscapulohumeral muscular
dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The 2 types typically
have the same signs and symptoms and are distinguished by their
_______________ - answer genetic cause
FSHD1 is caused by changes in a region of chromosome 4 called D4Z4
that result in the abnormal activation of a gene called _______.
Mutations in a gene called _________ are the underlying cause of
FSHD2 - answer DUX4; SMCHD1
Prevalence of FSHD - answer 1 in 20,000
____% of all cases are FSHD1 - answer 95%
, what does FSHD not affect? - answer 1) heart (rarely)
2) respiratory system (rarely)
3) learning disability/cognitive impairments
4) sensation
5) ability to control the bladder and bowels
6) sexual function
FSHD usually begins before age ___, but it can begin as early as
________ and as late as the _____ - answer 20; infancy; 50s
In most people with FSHD, the disease progresses ______________,
and most people affected by the disease have a _________ lifespan. -
answer very slowly; normal
Initial symptoms FSHD include weakness and atrophy of the muscles
around the... - answer eyes and mouth, shoulders, upper arms, and
lower legs
Later symptoms of FSHD - answer weakness can spread to abdominal
muscles and sometimes hip muscles
Individuals with FSHD typically have trouble drinking from straws,
whistling, and smiling. Why? - answer facial muscle weakness
Muscular Dystrophy
Fact Sheet
Facioscapulohumeral muscular dystrophy (FSHD) - answer a genetic
muscle disorder in which the muscles of the face, shoulder blades, and
upper arms are among the most affected
Researchers have described two types of facioscapulohumeral muscular
dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The 2 types typically
have the same signs and symptoms and are distinguished by their
_______________ - answer genetic cause
FSHD1 is caused by changes in a region of chromosome 4 called D4Z4
that result in the abnormal activation of a gene called _______.
Mutations in a gene called _________ are the underlying cause of
FSHD2 - answer DUX4; SMCHD1
Prevalence of FSHD - answer 1 in 20,000
____% of all cases are FSHD1 - answer 95%
, what does FSHD not affect? - answer 1) heart (rarely)
2) respiratory system (rarely)
3) learning disability/cognitive impairments
4) sensation
5) ability to control the bladder and bowels
6) sexual function
FSHD usually begins before age ___, but it can begin as early as
________ and as late as the _____ - answer 20; infancy; 50s
In most people with FSHD, the disease progresses ______________,
and most people affected by the disease have a _________ lifespan. -
answer very slowly; normal
Initial symptoms FSHD include weakness and atrophy of the muscles
around the... - answer eyes and mouth, shoulders, upper arms, and
lower legs
Later symptoms of FSHD - answer weakness can spread to abdominal
muscles and sometimes hip muscles
Individuals with FSHD typically have trouble drinking from straws,
whistling, and smiling. Why? - answer facial muscle weakness
