What is Joubert Syndrome?
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), jerky eye movements (oculomotor apraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur.. Most cases of Joubert syndrome are sporadic (not inherited). In some families, however, Joubert syndrome appears to be inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in a number of genes, including NPHP1, AHI1, and CEP290.
Is there any treatment?
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis.
What is the prognosis?
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.
What research is being done?
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.
**Information taken from National Institute of Neurological Disorders and Stroke website**
January 27, 2011
January 26, 2011
Friedreich's Ataxia
Before Tylor got diagnosed with Niemann Pick Type C (NPC) the doctors tested him for Friedeich's Ataxia. The test came back negative but they did find out that Tylor is a carrier of this disease.
Overview
Friedreich's ataxia is a rare disease passed down through families (inherited) that affects the muscles and heart.
Alternative Names
Spinocerebellar degeneration
Causes
Friedreich's ataxia is caused by a defect in a gene called Frataxin (FXN), which is located on chromosome 9. Changes in this gene cause the body to produce too much of part of DNA called trinucleotide repeat (GAA). Normally, the body contains about 8 to 30 copies of GAA. Those with Individuals with Friedreich's ataxia have as many as 1,000 copies. The more copies of GAA a patient has, the earlier in life the disease starts and the faster it gets worse.
Friedreich's ataxia is an autosomal recessive genetic disorder. This means you must get a copy of the defective gene from both your mother and father.
About 1 in every 22,000-29,000 develop this disease. Family history of the condition raises your risk.
Symptoms
Symptoms are caused by the wearing away of structures in areas of the brain and spinal cord that control coordination, muscle movement, and some sensory functions. Symptoms generally begin in childhood before puberty, and may include:
•Abnormal speech
•Changes in vision, particularly color vision
•Decrease in ability to feel vibrations in lower limbs
•Foot problems, such as hammer toe and high arches
•Hearing loss -- occurs in about 10% of patients
•Jerky eye movements
•Loss of coordination and balance, which leads to frequent falls
•Muscle weakness
•No reflexes in the legs
•Unsteady gait and uncoordinated movements (ataxia) -- gets worse with time
Muscle problems lead to changes in the spine, which may result in scoliosis or kyphoscoliosis.
Heart disease usually develops and may lead to heart failure. Death may result from heart failure or dysrhythmias that do not respond to treatment. Diabetes may develop in later stages of the disease.
Tests & diagnosis
The following tests may be performed:
•ECG
•Electrophysiological studies
•EMG (electromyography)
•Genetic testing for the frataxin gene
•Nerve conduction tests
•Muscle biopsy
•X-ray, CT scan, or MRI of the head
•X-ray of the chest
•X-ray of the spine
Tests of the heart may show a condition called hypertrophic cardiomyopathy in about 66% of persons with this condition.
Blood sugar (glucose) tests may reveal diabetes or glucose intolerance. An eye exam may show damage to the optic nerve, which usually occurs without symptoms.
Treatment
Treatment for Friedreich's ataxia includes:
•Counseling
•Speech therapy
•Physical therapy
•Walking aids or wheelchairs
Orthopedic interventions (such as braces) may be needed for scoliosis and foot problems. Treatment of heart disease and diabetes may help improve the quality and duration of life.
Prognosis
Friedreich's ataxia slowly gets worse and causes problems performing everyday activities. Most patients need to use a wheelchair within 15 years of the disease's start. The disease may lead to early death.
Complications
•Diabetes
•Heart failure or heart disease
•Loss of ability to move around
When to contact a doctor
Call your health care provider if muscle weakness, numbness, loss of coordination, loss of reflexes, or other symptoms of Friedreich's ataxia occur (particularly if there is a family history of the disorder).
Prevention
Individuals with a family history of Friedreich's ataxia who intend to have children should consider genetic screening and counseling to determine their risk.
**Information taken from Google Health**
Overview
Friedreich's ataxia is a rare disease passed down through families (inherited) that affects the muscles and heart.
Alternative Names
Spinocerebellar degeneration
Causes
Friedreich's ataxia is caused by a defect in a gene called Frataxin (FXN), which is located on chromosome 9. Changes in this gene cause the body to produce too much of part of DNA called trinucleotide repeat (GAA). Normally, the body contains about 8 to 30 copies of GAA. Those with Individuals with Friedreich's ataxia have as many as 1,000 copies. The more copies of GAA a patient has, the earlier in life the disease starts and the faster it gets worse.
Friedreich's ataxia is an autosomal recessive genetic disorder. This means you must get a copy of the defective gene from both your mother and father.
About 1 in every 22,000-29,000 develop this disease. Family history of the condition raises your risk.
Symptoms
Symptoms are caused by the wearing away of structures in areas of the brain and spinal cord that control coordination, muscle movement, and some sensory functions. Symptoms generally begin in childhood before puberty, and may include:
•Abnormal speech
•Changes in vision, particularly color vision
•Decrease in ability to feel vibrations in lower limbs
•Foot problems, such as hammer toe and high arches
•Hearing loss -- occurs in about 10% of patients
•Jerky eye movements
•Loss of coordination and balance, which leads to frequent falls
•Muscle weakness
•No reflexes in the legs
•Unsteady gait and uncoordinated movements (ataxia) -- gets worse with time
Muscle problems lead to changes in the spine, which may result in scoliosis or kyphoscoliosis.
Heart disease usually develops and may lead to heart failure. Death may result from heart failure or dysrhythmias that do not respond to treatment. Diabetes may develop in later stages of the disease.
Tests & diagnosis
The following tests may be performed:
•ECG
•Electrophysiological studies
•EMG (electromyography)
•Genetic testing for the frataxin gene
•Nerve conduction tests
•Muscle biopsy
•X-ray, CT scan, or MRI of the head
•X-ray of the chest
•X-ray of the spine
Tests of the heart may show a condition called hypertrophic cardiomyopathy in about 66% of persons with this condition.
Blood sugar (glucose) tests may reveal diabetes or glucose intolerance. An eye exam may show damage to the optic nerve, which usually occurs without symptoms.
Treatment
Treatment for Friedreich's ataxia includes:
•Counseling
•Speech therapy
•Physical therapy
•Walking aids or wheelchairs
Orthopedic interventions (such as braces) may be needed for scoliosis and foot problems. Treatment of heart disease and diabetes may help improve the quality and duration of life.
Prognosis
Friedreich's ataxia slowly gets worse and causes problems performing everyday activities. Most patients need to use a wheelchair within 15 years of the disease's start. The disease may lead to early death.
Complications
•Diabetes
•Heart failure or heart disease
•Loss of ability to move around
When to contact a doctor
Call your health care provider if muscle weakness, numbness, loss of coordination, loss of reflexes, or other symptoms of Friedreich's ataxia occur (particularly if there is a family history of the disorder).
Prevention
Individuals with a family history of Friedreich's ataxia who intend to have children should consider genetic screening and counseling to determine their risk.
**Information taken from Google Health**
January 25, 2011
January 20, 2011
Food Protein-Induced Enterocolitis Syndrome (FPIES)
January 20, 2011 - By KATE YORK Special to The News and Sentinel
MARIETTA - Braylen Arnold isn't your average picky eater.
The nearly 18-month-old Marietta boy does have screaming fits at the dinner table regularly, but they're rooted in what he can't have rather than not wanting what's offered.
Last spring, Braylen became one of only about 150 children in the U.S. to be diagnosed with food protein-induced enterocolitis syndrome (FPIES), a debilitating disease that mimics food allergies. Most children affected react to either wheat, rice, soy or dairy - Braylen reacts to them all.
"We have to keep him on a very strict diet," said his mother, Melissa Arnold. "He can only have (non-berry) fruit and formula. It's very hard because the older he gets, the more he wants to explore. He's fighting to have our food."
His parents, Melissa and Ben, had a fight of their own just to get their son diagnosed. Now, they're taking part in a benefit in Marietta Saturday that will help fund a Philadelphia Children's Hospital research study on FPIES, the first study of its kind in the U.S. Along with little research, there is no known cause and it's unclear whether it can be passed on.
"We don't want other parents to have to go through what we went through to get a diagnosis," said Melissa Arnold. "It's scary and it's sad to be a parent and feel that helpless."
Braylen was 3 months old when the couple fed him rice cereal for the first time and the symptoms began.
"He went to sleep immediately and then threw up for two hours," said Ben Arnold. "He was throwing up this yellow bile."
What followed was half a dozen visits to the local emergency room and to the family's physician and the frustration of parents knowing something is wrong with their child and being told it's not true.
"We got every diagnosis from the flu to a virus to that we were feeding him too much," said Melissa Arnold.
"None of the doctors knew anything about FPIES," said her husband.
For nearly six months, Braylen would be violently ill after eating, as well as sleepy and lethargic.
"I can remember a time when I was sitting on the floor with him and he was just limp," said his mother.
The family was eventually sent to Nationwide Children's Hospital in Columbus and to an allergist, who quickly diagnosed Braylen.
That began the little boy's new diet of $16-a-cup formula, dubbed "liquid gold" at the hospital, along with a few fruits.
"A typical day for him might be six to 10 cups of formula, a serving of olives for breakfast, an orange for lunch and three or four bananas," said Melissa Arnold. "It's hard to be creative. You can only cut fruit so many ways."
The toddler regularly visits Children's Hospital in Columbus and has patches, representing different foods, placed on his back to test for a reaction to determine whether the family can try to reintroduce any food item. So far, the only food he hasn't reacted to was corn, which was reintroduced into his diet just a few days ago.
"You can't imagine how excited he was," said Ben Arnold. "It was something different. It's one of the reasons olives are his favorite because they're not cold and sweet like the other fruit, but bitter and salty."
As long as he sticks to his diet, Braylen now functions like a healthy, normal 18-month-old with one exception. He recently began working with a speech therapist, due to minor delays in his speech development related to FPIES.
"He doesn't have different textures in his mouth like most children do," said Melissa Arnold. "He only eats soft, mushy foods and that can affect speech. He doesn't use his tongue very much."
Everyone around Braylen must be vigilant all the time.
"We'll be at a family reunion and everyone wants to hand him a chip or something," Ben Arnold said. "We have to explain it to everyone."
Evelyn Worstell, a member of Reno Christian Church, said no one there had heard of FPIES before Braylen's diagnosis.
"Everybody's known him since he was a tiny baby, and everyone wanted to help," she said. "And with the benefit, since it's for research, we're hoping to help a lot of kids."
The spaghetti dinner will be held from 4 to 7 p.m. Saturday at the Marietta Township Park and Recreation Center, with tickets $6 a person. It will include a silent auction, 50/50 drawing, country store and children's country store. Some of the silent auction prizes include six Ohio State tickets and two Bristol Motor Speedway tickets.
Doctors are hopeful he will grow out of the condition between the ages of 3 to 5, as many children do, and until then the family will be grateful for their rosy-cheeked, active little boy, said Melissa Arnold.
"Some children have even more severe reactions, like shock or low blood pressure or they have to have feeding tubes," she said. "This is difficult, but he gets to function as a normal 18-month-old. He has no limits."
 |
| The Arnold Family |
The nearly 18-month-old Marietta boy does have screaming fits at the dinner table regularly, but they're rooted in what he can't have rather than not wanting what's offered.
Last spring, Braylen became one of only about 150 children in the U.S. to be diagnosed with food protein-induced enterocolitis syndrome (FPIES), a debilitating disease that mimics food allergies. Most children affected react to either wheat, rice, soy or dairy - Braylen reacts to them all.
"We have to keep him on a very strict diet," said his mother, Melissa Arnold. "He can only have (non-berry) fruit and formula. It's very hard because the older he gets, the more he wants to explore. He's fighting to have our food."
His parents, Melissa and Ben, had a fight of their own just to get their son diagnosed. Now, they're taking part in a benefit in Marietta Saturday that will help fund a Philadelphia Children's Hospital research study on FPIES, the first study of its kind in the U.S. Along with little research, there is no known cause and it's unclear whether it can be passed on.
"We don't want other parents to have to go through what we went through to get a diagnosis," said Melissa Arnold. "It's scary and it's sad to be a parent and feel that helpless."
Braylen was 3 months old when the couple fed him rice cereal for the first time and the symptoms began.
"He went to sleep immediately and then threw up for two hours," said Ben Arnold. "He was throwing up this yellow bile."
What followed was half a dozen visits to the local emergency room and to the family's physician and the frustration of parents knowing something is wrong with their child and being told it's not true.
"We got every diagnosis from the flu to a virus to that we were feeding him too much," said Melissa Arnold.
"None of the doctors knew anything about FPIES," said her husband.
For nearly six months, Braylen would be violently ill after eating, as well as sleepy and lethargic.
"I can remember a time when I was sitting on the floor with him and he was just limp," said his mother.
The family was eventually sent to Nationwide Children's Hospital in Columbus and to an allergist, who quickly diagnosed Braylen.
That began the little boy's new diet of $16-a-cup formula, dubbed "liquid gold" at the hospital, along with a few fruits.
"A typical day for him might be six to 10 cups of formula, a serving of olives for breakfast, an orange for lunch and three or four bananas," said Melissa Arnold. "It's hard to be creative. You can only cut fruit so many ways."
The toddler regularly visits Children's Hospital in Columbus and has patches, representing different foods, placed on his back to test for a reaction to determine whether the family can try to reintroduce any food item. So far, the only food he hasn't reacted to was corn, which was reintroduced into his diet just a few days ago.
"You can't imagine how excited he was," said Ben Arnold. "It was something different. It's one of the reasons olives are his favorite because they're not cold and sweet like the other fruit, but bitter and salty."
As long as he sticks to his diet, Braylen now functions like a healthy, normal 18-month-old with one exception. He recently began working with a speech therapist, due to minor delays in his speech development related to FPIES.
"He doesn't have different textures in his mouth like most children do," said Melissa Arnold. "He only eats soft, mushy foods and that can affect speech. He doesn't use his tongue very much."
Everyone around Braylen must be vigilant all the time.
"We'll be at a family reunion and everyone wants to hand him a chip or something," Ben Arnold said. "We have to explain it to everyone."
Evelyn Worstell, a member of Reno Christian Church, said no one there had heard of FPIES before Braylen's diagnosis.
"Everybody's known him since he was a tiny baby, and everyone wanted to help," she said. "And with the benefit, since it's for research, we're hoping to help a lot of kids."
The spaghetti dinner will be held from 4 to 7 p.m. Saturday at the Marietta Township Park and Recreation Center, with tickets $6 a person. It will include a silent auction, 50/50 drawing, country store and children's country store. Some of the silent auction prizes include six Ohio State tickets and two Bristol Motor Speedway tickets.
Doctors are hopeful he will grow out of the condition between the ages of 3 to 5, as many children do, and until then the family will be grateful for their rosy-cheeked, active little boy, said Melissa Arnold.
"Some children have even more severe reactions, like shock or low blood pressure or they have to have feeding tubes," she said. "This is difficult, but he gets to function as a normal 18-month-old. He has no limits."
January 19, 2011
Tay-Sachs Disease-Dakotas Dream 2008
What is Tay-Sachs Disease?
Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.
Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise. A much rarer form of the disorder occurs in patients in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. Persons with Tay-Sachs also have "cherry-red" spots in their eyes. The incidence of Tay-Sachs is particularly high among people of Eastern European and Askhenazi Jewish descent. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.
Is there any treatment?
Presently there is no treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.
What is the prognosis?
Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Tay-Sachs disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.
Information taken from the NIH website
Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.
Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise. A much rarer form of the disorder occurs in patients in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. Persons with Tay-Sachs also have "cherry-red" spots in their eyes. The incidence of Tay-Sachs is particularly high among people of Eastern European and Askhenazi Jewish descent. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.
Is there any treatment?
Presently there is no treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.
What is the prognosis?
Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Tay-Sachs disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.
Information taken from the NIH website
January 18, 2011
Another rare disease~Spinal Muscular Atropy
Over the past couple of days I have been posting information and videos about other rare diseases. As I posted before World Rare Disease Day is February 28th 2011. I will continue to post blogs about other rare diseases to educate people on how these diseases effect our children and in some cases adults.
Today's video is about the Fight for Gwendolyn. Gwendolyn has Spinal Muscular Atropy (SMA). SMA is the leading genetic killer of children under two. SMA alters the use of all muscles, impacting the ability to sit, walk, eat, breathe, and even swallow. The mind is never affected, making the children fully aware of their failing body. Life expectancy is between two and three years of age.
Today's video is about the Fight for Gwendolyn. Gwendolyn has Spinal Muscular Atropy (SMA). SMA is the leading genetic killer of children under two. SMA alters the use of all muscles, impacting the ability to sit, walk, eat, breathe, and even swallow. The mind is never affected, making the children fully aware of their failing body. Life expectancy is between two and three years of age.
January 17, 2011
Huntington's Disease
Huntington's disease is a disorder passed down through families in which certain nerve cells in the brain waste away, or degenerate.
American doctor George Huntington first described the disorder in 1872.
Huntington's disease is caused by a genetic defect on chromosome #4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 35 times. But in persons with Huntington's disease, it is repeated 36 to 120 times.
As the gene is passed on from one generation to the next, the number of repeats - called a CAG repeat expansion - tend to get larger. The larger the number of repeats, the greater your chance of developing symptoms at an earlier age. Therefore, as the disease is passed along in families, it becomes evident at younger and younger ages.
There are two forms of Huntington's disease. The most common is adult-onset Huntington's disease. Persons with this form usually develop symptoms in their mid 30s and 40s.
An early-onset form of Huntington's disease accounts for a small number of cases and begins in childhood or adolescence. Symptoms may resemble those of Parkinson's disease with rigidity, slow movements, and tremor.
If one of your parents has Huntington's disease, you have a 50% chance of getting the gene for the disease. If you get the gene from your parents, you will develop the disease at some point in your life, and can pass it onto your children. If you do not get the gene from your parents, you cannot pass the gene onto your children.
Behavior changes may occur before movement problems, and can include:
•Antisocial behaviors
•Hallucinations
•Irritability
•Moodiness
•Restlessness or fidgeting
•Paranoia
•Psychosis
Abnormal and unusual movements include:
•Head turning to shift eye position
•Facial movements, including grimaces
•Slow, uncontrolled movements
•Quick, sudden, sometimes wild jerking movements of the arms, legs,face, andother body parts
•Unsteady gait
Dementia that slowly gets worse, including:
•Loss of memory
•Loss of judgment
•Speech changes
•Personality changes
•Disorientation or confusion
Additional symptoms that may be associated with this disease:
•Anxiety, stress, and tension
•Difficulty swallowing
•Speech impairment
Symptoms in children:
•Rigidity
•Slow movements
•Tremor
There is no cure for Huntington's disease, and there is no known way to stop the disease from getting worse. The goal of treatment is to slow down the course of the disease and help the person function for as long and as comfortably as possible.
Medications vary depending on the symptoms. Dopamine blockers may help reduce abnormal behaviors and movements. Drugs such as haloperidol, tetrabenazine, and amantadine are used to try to control extra movements. There has been some evidence to suggest that co-enzyme Q10 may also help slow down the course of the disease.
Depression and suicide are common among persons with Huntington's disease. It is important for all those who care for a person with Huntington's disease to monitor for symptoms and treat accordingly.
As the disease progresses, patients will need assistance and supervision. They may eventually need 24-hour care.
Huntington's disease causes disability that gets worse over time. Persons with this disease usually die within 15 to 20 years. The cause of death is often infection, although suicide is also common.
It is important to realize that the disease affects everyone differently. The number of CAG repeats may determine the severity of symptoms. Persons with few repeats may have mild abnormal movements later in life and slow disease progression, while those with a large number of repeats may be severely affected at a young age.
The following video clips are about a family suffering from Huntington's Disease. The Father and 3 daugthers are affected by this horrible disease. The second video has no sound but it shows the progression of the disease.
American doctor George Huntington first described the disorder in 1872.
Huntington's disease is caused by a genetic defect on chromosome #4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 35 times. But in persons with Huntington's disease, it is repeated 36 to 120 times.
As the gene is passed on from one generation to the next, the number of repeats - called a CAG repeat expansion - tend to get larger. The larger the number of repeats, the greater your chance of developing symptoms at an earlier age. Therefore, as the disease is passed along in families, it becomes evident at younger and younger ages.
There are two forms of Huntington's disease. The most common is adult-onset Huntington's disease. Persons with this form usually develop symptoms in their mid 30s and 40s.
An early-onset form of Huntington's disease accounts for a small number of cases and begins in childhood or adolescence. Symptoms may resemble those of Parkinson's disease with rigidity, slow movements, and tremor.
If one of your parents has Huntington's disease, you have a 50% chance of getting the gene for the disease. If you get the gene from your parents, you will develop the disease at some point in your life, and can pass it onto your children. If you do not get the gene from your parents, you cannot pass the gene onto your children.
Behavior changes may occur before movement problems, and can include:
•Antisocial behaviors
•Hallucinations
•Irritability
•Moodiness
•Restlessness or fidgeting
•Paranoia
•Psychosis
Abnormal and unusual movements include:
•Head turning to shift eye position
•Facial movements, including grimaces
•Slow, uncontrolled movements
•Quick, sudden, sometimes wild jerking movements of the arms, legs,face, andother body parts
•Unsteady gait
Dementia that slowly gets worse, including:
•Loss of memory
•Loss of judgment
•Speech changes
•Personality changes
•Disorientation or confusion
Additional symptoms that may be associated with this disease:
•Anxiety, stress, and tension
•Difficulty swallowing
•Speech impairment
Symptoms in children:
•Rigidity
•Slow movements
•Tremor
There is no cure for Huntington's disease, and there is no known way to stop the disease from getting worse. The goal of treatment is to slow down the course of the disease and help the person function for as long and as comfortably as possible.
Medications vary depending on the symptoms. Dopamine blockers may help reduce abnormal behaviors and movements. Drugs such as haloperidol, tetrabenazine, and amantadine are used to try to control extra movements. There has been some evidence to suggest that co-enzyme Q10 may also help slow down the course of the disease.
Depression and suicide are common among persons with Huntington's disease. It is important for all those who care for a person with Huntington's disease to monitor for symptoms and treat accordingly.
As the disease progresses, patients will need assistance and supervision. They may eventually need 24-hour care.
Huntington's disease causes disability that gets worse over time. Persons with this disease usually die within 15 to 20 years. The cause of death is often infection, although suicide is also common.
It is important to realize that the disease affects everyone differently. The number of CAG repeats may determine the severity of symptoms. Persons with few repeats may have mild abnormal movements later in life and slow disease progression, while those with a large number of repeats may be severely affected at a young age.
The following video clips are about a family suffering from Huntington's Disease. The Father and 3 daugthers are affected by this horrible disease. The second video has no sound but it shows the progression of the disease.
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