Hereditary neuropathies are a group of
inherited disorders affecting the peripheral nervous
The Inherited Neuropathies are those
that are created when the genes create some form of
Heredity comes from the gene makeup
and one thing should be mentioned is that genetic
damage and alteration can be done by many factors in
our environment. This damage can be from a break in
the DNA strand structure, or a change in the sequence
of the genes. In
human cells both metabolic activities and
environmental factors can cause DNA damage
and toxins can also produce damage.
Metabolic activities producing large amounts of free
radical can produce damage. (A good reason to make
sure that a person has enough antioxidants. See Free
Radicals and Anti-Oxidants)
Some forms of Charcot-Marie-Tooth (CMT)
disease are inherited. This disease creates both motor
and sensory neuropathies. This is sometimes called
Inherited Charcot Marie Tooth Disease. In
some cases the gene mutation causing CMT disease is a
new mutation which occurs due to gene damage and not
passed down from parent to child.
It damages the nerves. A typical
feature includes weakness of the foot and lower leg
muscles, which may result in foot drop and a
high-stepped gait with frequent tripping or falls
CMT is caused by mutations in genes
that produce proteins involved in the structure and
function of either the peripheral nerve axon or the
myelin sheath. The degeneration means the nerves
slowly lose the ability to communicate which results
in muscle weakness and atrophy. Degeneration of
sensory nerves results in a reduced ability to feel
heat, cold and pain.
A rare form of genetic disorders which
results in a disruption of lipid metabolism It is a
result of a malfunction of the gene that makes the
enzymes that breaks down the acid, phytanic acid. In
this disease there is an accumulation of these fatty
acids in blood and tissues. As a result, it builds up
in the body's tissues. The nerves of the brain can
fail to grow in children. This accumulation is toxic
to the nerve cell.
It is characterized by a progressive
loss of vision, or vision impairment. It creates
degenerative nerve disease (peripheral neuropathy),
failure of muscle coordination (ataxia) and bone and
There is Adult Refsum Disease (ARD)
and Classic Refsum Disease (CRD).
may include night blindness, loss of peripheral
vision, and numbness and weakness associated with
failure of muscle coordination. Affected individuals
may experience an unusual burning or prickling
sensation (paresthesia) of arms and legs. Neurological
symptoms include unsteady walking with frequent falls
(ataxia), and peripheral neuropathy (characterized by
sensory, motor, and reflex changes). Skin changes may
include dryness, itchiness, and scaliness
Treatment with a diet low in foods
that contain phytanic acid can be beneficial. Our
bodies cannot make phytanic acid. Instead, it is
introduced to the body in certain foods, including
dairy products, beef, lamb and some seafood.
Porphyria (poor-FEAR-e-uh) refers to a
group of disorders that result from a buildup of
natural chemicals that produce porphyrin in your body.
Porphyrins are essential for the function of
hemoglobin — a protein in your red blood cells that
links to porphyrin, binds iron, and carries oxygen to
your organs and tissue. High levels of porphyrins can
cause significant problems.
Porphyria mainly affects your nervous
system, skin and other organs.
The signs and symptoms of porphyria
can vary, depending on the specific type and severity.
Porphyria is usually inherited — one or both parents
pass along an abnormal gene to their child. But in
some types of porphyria, environmental factors may
trigger the development of symptoms.
Treatment depends on the type of
porphyria you have. Certain lifestyle changes may help
you manage it.
Also known as Anderson-Fabry Disease, Angiokeratoma
corporis diffusum and alpha-galactosidase A deficiency
This is an inherited disorder that
results from the buildup of a particular type of fat
called gluobtriaosylceramide in the body’s cells.
This begins in childhood. The buildup affects many
parts of the body including the nerves.
Symptoms can be episodes of pain,
particularly in the hands and feet; clusters of small,
dark red spots on the skin, a decreased ability to
sweat, cloudiness of the front part of the eye
(corneal opacity) problems with the gastrointestinal
tract, ringing in the ears (tinnitus) and hearing
loss. It can also be life threatening with
complications such as progressive kidney damage, heart
attack, and stroke.
Some individuals have milder forms of
this disease that appears later in life and affect
only the heart or kidneys. It is more common in males
Neuropathy With Liability to Pressure Palsies
This is a hereditary disorder in which
nerves become increasingly sensitive to pressure,
injury, and use.
In this neuropathy, nerves are
susceptible to damage resulting from relatively slight
pressure or injury or from repetitive use. Usually,
this neuropathy starts during adolescence or young
adulthood, but it may start at any age. It affects
both sexes equally. Only one gene from one parent is
required for the disease to develop
Symptoms tend to come and go.
Peroneal nerve palsy with footdrop,
ulnar nerve palsy, and carpal tunnel syndrome commonly
develop. Numbness or weakness can occur.
Symptoms vary from very mild to severe. Episodes may
last several minutes or go on for months. After an
episode, about half of the people recover completely,
and the rest have mild symptoms.
We have used our best judgment in compiling this information. The Food and Drug Administration may not have evaluated the information presented. Any reference to a specific product is for your information only and is not intended to diagnose, treat, cure, or prevent any disease