FABRY’ S DISEASE
F
Fabry’s disease
A rare inherited disorder caused by a
deficiency of alpha-galactosidase A, an
enzyme
(a protein that acts as a catalyst)
necessary for the metabolism of certain
lipids
(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
genetic dis-
orders
)
and
therefore
affects
males
more commonly than females.
SYMPTOMS
Among the first symptoms to develop,
often in childhood, are pain and dis-
comfort in the hands and feet as a
result
of damage
to
the
peripheral
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
car-
bamazepin
e .
Sufferers usually survive
into adulthood but are at risk from
strokes, heart attacks, and kidney damage.
face-lift
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-
mon
following
the
procedure,
and
there may be some discomfort. Stitches
are removed three to five days after the
operation.
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.
facet joint
A type of joint found in the
spine
,
formed by the process (bony projec-
tion)
of one vertebra fitting into a
hollow in the vertebra above. Facet
joints allow a degree of movement
between
vertebrae,
w hich
gives
the
spine its flexibility.
facial nerve
The seventh
cranial nerve
,
w hich arises
from structures in the
brainstem
and
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;
and
it
conveys
sensory
information
from the tongue and from the outer ear.
Damage to the facial nerve results
in weakness of the facial muscles (see
facial palsy
) and, in some cases, loss of
LOCATION OF THE
FACIAL NERVE
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
stroke.
facial pain
Pain in the face may be due to any one
of a variety of causes or may occur for
no known reason.
CAUSES
Injury to the face, such as by blows or
cuts, is a common cause of facial pain.
Facial pain is also commonly due to
infection.
Sinusitis
(inflammation of the
air spaces in the facial bones) can cause
pain around the eyes and in the cheek
bones. The onset of
mumps
can cause
pain in the cheeks before swelling is
apparent; the pain is in front of and/or
below the ears. Pain from a
boil
in the
nose or ear may also be felt in the face.
Problems w ith the teeth and jaws are
another common cause of facial pain.
Such problems
include
severe
tooth
decay (see
caries, dental)
,
an abscess (see
abscess, dental
) ,
impacted wisdom teeth
(see
impaction, dental
) ,
or partial dislo-
cation of the jaw (see
jaw, dislocated
) .
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
precedes
the
rash
of
herpes zoster
(shingles) and the intermittent shoot-
ing pain of
trigeminal neuralgia
,
w hich
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
may cause
referred pain
in the face. For
example, in
angina pectoris
(chest pain
due to impaired blood supply to the
heart muscle), pain may also be felt in
the jaw. During a
migraine
headache,
pain may also occur on one side of the
face. Facial pain that occurs for no
apparent reason may occasionally be a
symptom of
depression
.
TREATMENT
Analgesic drugs
(painkillers) can pro-
vide temporary relief from pain, but
severe or persistent facial pain requires
medical attention.
facial palsy
Weakness of the facial muscles as a
result of damage to, or inflammation
of, the
facial
nerve.The condition is usu-
ally temporary and affects only one
side of the face.
CAUSES
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
herpes zoster
(shingles)
affecting the ear and facial nerve. Facial
palsy may also result from
surgical
damage to this nerve, or compression
of the nerve by a tumour.
SYMPTOMS
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
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