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Type
A Niemann-Pick begins in the first few
months of life. Symptoms may include:
·
Feeding
difficulties
·
A
large abdomen within 3 to 6 months
·
Progressive
loss of early motor skills
·
Cherry
red spot in the eye
Type
B is biochemically similar to Type A
but the symptoms are more variable.
Abdominal enlargement may be detected
in early childhood but there is almost
no neurological
involvement, such as loss of motor
skills. Some patients may develop
repeated respiratory
infections.
Type C Niemann-Pick usually affects
children of school age, but the
disease may strike at any time from
early infancy to adulthood. Symptoms
may include:
·
Jaundice
at (or shortly after) birth
·
An
enlarged spleen and/or liver
·
Difficulty
with upward and downward eye movements
(Vertical Supranuclear Gaze Palsy).
·
Unsteadiness
of gait, clumsiness, problems in
walking ("ataxia")
·
Difficulty
in posturing of limbs
("dystonia")
·
Slurred,
irregular speech
("dysarthria")
·
Learning
difficulties and progressive
intellectual decline
("dementia")
·
Sudden
loss of muscle tone which may lead to
falls ("cataplexy")
·
Tremors
accompanying movement and, in some
cases, seizures.
Because
the symptoms of all forms of
Niemann-Pick are variable, no single
symptom should be used to include or
exclude Niemann-Pick as a diagnosis. A
person in the early stages of the
disease may exhibit only a few of the
symptoms. Even in the later stages of
the disease, not all symptoms may be
present.
In addition, symptoms are progressive
but the rate of progression is
different from person to person.
Finally, the symptoms of Niemann-Pick
are also found in other, more common,
diseases. These factors make it
difficult to diagnose Niemann-Pick
without appropriate
testing.
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