FABRY’ S DISEASE
A rare inherited disorder caused by a
deficiency of alpha-galactosidase A, an
(a protein that acts as a catalyst)
necessary for the metabolism of certain
(fats) in the body W ithout the
enzyme, lipid molecules accumulate in
the tissues, especially in the nerves,
heart, and kidneys.
Fabry’s disease is inherited as an
X-linked recessive trait (see
more commonly than females.
Among the first symptoms to develop,
often in childhood, are pain and dis-
comfort in the hands and feet as a
nerves. As the condition progresses,
heart and kidney function may become
impaired. Female carriers usually show
only m ild symptoms.
TREATMENT AND OUTLOOK
Hand and feet pain is treated w ith
Sufferers usually survive
into adulthood but are at risk from
strokes, heart attacks, and kidney damage.
A cosmetic operation to smooth out
w rinkles and lift sagging skin on the
face to make it look younger. The effect
is achieved by making an incision near
or along the hairline on each side of
the face, lifting the skin off the face,
and then removing the excess skin. The
edges of skin are then stitched back
together w ithin the hairline.
Some bruising of the face is com-
there may be some discomfort. Stitches
are removed three to five days after the
In most cases, the scars,
w hich fade w ithin about a year, are
hidden by natural crease lines or by
the hair. The effect of a face-lift usually
lasts about five years.
In a few cases, satisfactory healing
does not occur because blood accumu-
lates under the skin
or because of
infection that leads to severe scarring.
A type of joint found in the
formed by the process (bony projec-
of one vertebra fitting into a
hollow in the vertebra above. Facet
joints allow a degree of movement
spine its flexibility.
w hich arises
from structures in the
sends branches to the face, neck, sali-
vary glands, and outer ear.
The facial nerve performs both motor
and sensory functions. It controls the
neck muscles and those of facial expres-
sion; it stimulates the secretion of saliva;
from the tongue and from the outer ear.
Damage to the facial nerve results
in weakness of the facial muscles (see
) and, in some cases, loss of
LOCATION OF THE
Arising from the brainstem, the facial
nerve has branches that connect
to the outer ear, tongue, salivary
glands, and muscles of facial
expression in the neck and face.
taste. Such damage is probably most
often due to a viral infection but may
also occur in
Pain in the face may be due to any one
of a variety of causes or may occur for
no known reason.
Injury to the face, such as by blows or
cuts, is a common cause of facial pain.
Facial pain is also commonly due to
(inflammation of the
air spaces in the facial bones) can cause
pain around the eyes and in the cheek
bones. The onset of
pain in the cheeks before swelling is
apparent; the pain is in front of and/or
below the ears. Pain from a
nose or ear may also be felt in the face.
Problems w ith the teeth and jaws are
another common cause of facial pain.
an abscess (see
impacted wisdom teeth
or partial dislo-
cation of the jaw (see
Damage to one of the nerves that
supply the face can also produce severe
pain. Conditions resulting from nerve
damage include the stabbing pain that
(shingles) and the intermittent shoot-
ing pain of
usually affects the cheek, lip, gum, or
chin on one side and is often brought
on by touching the face or chewing.
A disorder elsewhere in the body
in the face. For
due to impaired blood supply to the
heart muscle), pain may also be felt in
the jaw. During a
pain may also occur on one side of the
face. Facial pain that occurs for no
apparent reason may occasionally be a
(painkillers) can pro-
vide temporary relief from pain, but
severe or persistent facial pain requires
Weakness of the facial muscles as a
result of damage to, or inflammation
nerve.The condition is usu-
ally temporary and affects only one
side of the face.
Facial palsy is most often due to Bell’s
palsy, w hich occurs for no known rea-
son. Less commonly, the condition is
associated w ith
affecting the ear and facial nerve. Facial
palsy may also result from
damage to this nerve, or compression
of the nerve by a tumour.
Facial palsy usually develops suddenly.
The eyelid and the corner of the mouth
on one side of the face droop, and there
may be pain in the ear on that side. The
ability to wrinkle the brow or to close