Fw: Pamphlet: Hereditary Ataxia --> Becky

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> Copyright 1993 by the National Ataxia Foundation, Inc.

> All rights reserved.

>

> HEREDITARY OLIVOPONTOCEREBELLAR ATROPHY

>

>

> HEREDITARY ATAXIA - ADULT ONSET

>

>

> What is hereditary ataxia?

>

> Hereditary ataxia is not a single disorder, but a group of

disorders which

> have in common that they cause ataxia and that they run in families.

> Physicians and researchers usually separate out from this category

patients

> whose ataxia is caused by a known metabolic defect (e.g.

hexosaminidase

> deficiency) or whose symptoms fit a more specific, named disorder

(such as

> Friedreich's ataxia), although these too are hereditary diseases

that

cause

> ataxia.

>

> Scientists have used a number of different methods to categorize

and name

> the

> hereditary, adult-onset ataxias, none of which have been entirely

> satisfactory. Here are some of the terms you may see or hear used in

> describing hereditary ataxia:

>

> hereditary OPCA (olivopontocerebellar atrophy)

> spinocerebellar ataxia (SCA)

> SCA-1, SCA-2, SCA-3

> " slow-eye movement " ataxia

> Machado-ph disease

> " pure " cerebellar ataxia

> OPCA I, OPCA II, OPCA III, OPCA IV

> ataxia with ophthalmoplegia

> ataxia with retinopathy

> Marie's ataxia

> Holmes ataxia

> Menzel's ataxia

> spinopontine atrophy

>

>

> How does a physician diagnose hereditary ataxia?

>

> In most cases, the physician bases a diagnosis of hereditary ataxia

on:

>

> 1) The presence of neurologic symptoms and signs that

> are usually seen in ataxia

>

> 2) The presence of other similarly affected family

> members

>

> 3) The absence of other diseases (such as multiple

> sclerosis or stroke) which could account for the

> symptoms

>

>

> It is virtually impossible to diagnose HEREDITARY ataxia in someone

who

has

> no

> similarly affected relatives; in these cases, the diagnosis

of " sporadic

> ataxia " is usually made. As the genes which cause hereditary ataxia

are

> identified, simple blood tests to diagnose some forms of ataxia will

become

> available.

>

> The symptoms that are often present in patients with hereditary

ataxia

> include:

>

> 1) ataxia, or incoordination of the hands, arms, feet,

> or legs;

>

> 2) slowness, stiffness, or clumsiness of movement;

>

> 3) thick or slurred speech (dysarthria) or choking

> (dysphagia).

>

> These symptoms are usually due to abnormal function of the

cerebellum, the

> coordination center of the brain. As the disease progresses,

patients may

> develop additional symptoms related to other parts of the brain or

nervous

> system, such as inability to move the eyes, weakness, tremor,

spasticity,

> dementia, or loss of feeling in the feet or hands (neuropathy). Even

within

> the same family, the severity of one or another symptom may vary

from one

> person to the next. Occasionally, the symptoms NOT related to the

cerebellum

> are so much more prominent than the ataxic symptoms that a person

may

> receive

> a diagnosis of another disorder, such as Parkinson's disease, when

in

fact,

> she/he has hereditary ataxia.

>

> Because the symptoms of hereditary ataxia may also be seen in a

number of

> other neurologic disorders, individuals suspected of having

hereditary

> ataxia

> may be asked to undergo a number of tests to " rule out " other

conditions,

> and

> to look for the changes in the cerebellum that are present in most

> individuals

> with hereditary ataxia. These tests might include blood or urine

tests; a

CT

> or CAT (computerized axial tomography) or MRI (magnetic resonance

imaging)

> scan of the brain or spinal cord; an EMG (electromyogram) to access

the

> function of the nerves and muscles; and sometimes an EEG

> (electroencephalogram) or spinal tap. THe PET (positron emission

tomography)

> scan is used in some centers to access the function of the

cerebellum and

> other parts of the brain.

>

>

> What should I do if I have hereditary ataxia?

>

> A person who suspects that he or she has hereditary ataxia should

first

> consult a neurologist or other physician for a thorough neurologic

> evaluation,

> to make sure there are no other possible medical or neurologic

causes for

> the

> symptoms, and to make a proper diagnosis.

>

> All of the hereditary ataxias tend to progress over time, so that a

person

> diagnosed with ataxia can be expected to have increasing needs;

however,

how

> fast the disease progresses varies widely from one individual to

the next.

> Many patients with ataxia live normal lifespans. Because this is a

chronic

> disease with many potential complications, the person who has

hereditary

> ataxia should identify a medical caregiver who understands ataxia

and is

> able

> to coordinate the necessary services, which may include social

services,

> speech pathology, genetic counseling, psychological or family

counseling,

> and

> rehabilitation medicine (physical therapy and occupational

therapy), among

> others. Because many physicians and other medical professionals are

not

> knowledgeable about ataxia, it is important for the affected person

and

his

> family to become knowledgeable themselves, so that they can assist

their

> caregivers in providing appropriate care and services.

>

> The NAF can assist families with hereditary ataxia in finding local

or

> regional sources of support and information and by providing names

of

> physicians specializing in the study of ataxia.

>

>

> How is hereditary ataxia passed on in a family?

>

> Because there are several different types of hereditary ataxia,

there are

> different ways that the disease may be passed on in the family. It

is

> important to know that ataxia is not contagious, so there is no

reason to

> avoid a person who has ataxia for fear of " catching " it.

>

> Most of the time, ataxia in families with adult onset of symptoms is

passed

> on

> in an " autosomal dominant " fashion. The word " autosomal " means that

the

sex

> of the person does not matter; ataxia can strike men or women in the

family

> with equal likelihood. The word " dominant " means that the disease-

causing

> ataxia gene can't hide; anyone who has the altered gene will

eventually

> develop symptoms of ataxia. Thus, the disease does not skip

generations;

in

> the family tree anyone who has ataxia has a parent who also had

ataxia.

Two

> other facts are important to know about autosomal dominant

inheritance. A

> person who does not have the altered ataxia gene will not develop

ataxia

and

> cannot pass ataxia on to his or her children. A person who DOES

have the

> altered ataxia gene CAN pass ataxia on to his or her children

whether or

not

> he or she had SYMPTOMS of ataxia at the time that the children were

born.

>

> Another way that ataxia can be passed on in families is in

an " autosomal

> recessive " fashion. Friedreich's ataxia is an example of a form of

ataxia

> that is autosomal recessive. Autosomal recessive diseases affect

men and

> women equally, but a recessive gene can be passed on by

an " asymptomatic

> carrier " , that is, a person who has no symptoms of ataxia. It takes

a

double

> dose of an altered recessive gene to result in a disease; in other

words,

> both

> parents have to be carriers of an altered gene in order to have a

child or

> children with the disease. Although all human beings carry a few

genes

which

> are altered in some way, it is uncommon to bear children with

another

person

> who carries the same altered gene (unless the other person is a

blood

> relative

> or the two individuals live in a socially or geographically isolated

area).

> Thus, autosomal recessive forms of ataxia are uncommon, but do

occur.

>

> A geneticist or physician can usually tell by looking at the family

tree

> whether ataxia is dominant or recessive or inherited in some other

way. It

> may be very important, then, for the family history to be explored.

>

> These genetic concepts are described in more detail in a pamphlet

entitled

> " Genetics 101 " .

>

>

> How can the National Ataxia Foundation help me?

>

> The National Ataxia Foundation has a series of informational

brochures,

> quarterly newsletter, and an updated annual list of published

research

> articles. Learn from other individuals and families who have ataxia

through

> an established computer bulletin board, join one of NAF's chapters

or

> support

> groups and or the " Pen-Pals " .

>

>

> National Ataxia Foundation

> 2600 Fernbrook Ln

> Suite 119

> Minneapolis, MN 55447

>

> Phone:

> Fax:

>

> email: naf@m...

> Homepage: http://www.ataxia.org

>

>

>

>

>

>

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