Canavan disease is a rare neurological autosomal recessive disorder that can only be inherited if both of the parents of the offspring have a certain mutated gene. This mutation makes it so that the enzyme called aspartoacylase, or ASPA for short, is absent in the brain. Aspartoacylase breaks down the compound called N-acetyl-L-aspartic acid (NAA) into materials to make myelin, or white matter. The chances of having a child with Canavan disease would be one out of four, or 25 percent. However, there is a fifty percent chance that an offspring will be a carrier for the disease. It also occurs in many families with no history for Canavan disease before.
Canavan disease is included in a group of disorders called leukodystrophies. Leukodystrophies, like Canavan disease, affect the nerve covering myelin by way of degeneration. However, Canavan disease also has its own symptoms, making it different from other leukodystrophies. Most symptoms usually start to appear in children under the age of one. The first signs of the disorder appear at ages three to five months, and these are problems with development. These first problems infants exhibit are usually a delay in motor skills like sitting without support and controlling head movement. Some other symptoms include an abnormal posture with arms and legs being flexed, increasing head size, feeding problems, poor muscle tone (hypotonia), loss of coordination, swallowing difficulties, and seizures. Sitting, standing, and walking in affected children almost never happens, and it is very rare if it does happen. Most parents first notice something is wrong when their child is not achieving development milestones, and this should set off many red flags to get help. The children who are af...
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... regardless of ethnicity, although the diseases' prevalence in other ethnicities is not known. There is an estimated one person affected with Canavan disease out of every two hundred thousand births worldwide. In the United States, there are not many cases of Canavan disease. Closer to home here in Massachusetts, there are even fewer cases, if there even are any occurrences.
Works Cited
http://ghr.nlm.nih.gov/condition/canavan-disease http://www.nlm.nih.gov/medlineplus/ency/article/001586.htm http://www.canavanfoundation.org/how_canavan_disease_is_inherited http://www.canavanresearch.org/whatis.htm http://www.cafamily.org.uk/medical-information/conditions/c/canavan-disease/ http://www.tay-sachs.org/canavan_disease.php http://www.canavanfoundation.org/about_canavan_disease http://www.ntsad.org/index.php/canavan/causes http://www.ncbi.nlm.nih.gov/pubmed/22592512
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
Over 200,000 Americans suffer from Crohn’s, according to Dr. Richard Curtis, chief of gastroenterology at Newton-Wellesley Hospital. Though the disease does not target a specific age group, certain risk factors do exist. People who have a genetic predisposition to it are more likely to develop Crohn’s, said Dr. Curtis. For example, people who have a close relative with Crohn’s have a 20 percent chance of being diagnosed with it themselves. Crohn’s is more common in Jews than in non-Jews; it is most common in Ashkenazic Jews than any other group.
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Flaccid dysarthria results from damage to the lower motor neurons (LMN) or the peripheral nervous system (Hageman, 1997). The characteristics of flaccid dysarthria generally reflect damage to cranial nerves with motor speech functions (e.g., cranial nerves IX, X, XI and XII) (Seikel, King & Drumright, 2010). Lower motor neurons connect the central nervous system to the muscle fibers; from the brainstem to the cranial nerves with motor function, or from the anterior horns of grey matter to the spinal nerves (Murdoch, 1998). If there are lesions to spinal nerves and the cranial nerves with motor speech functions, it is indicative of a lower motor neuron lesion and flaccid dysarthria. Damage to lower motor neurons that supply the speech muscles is also known as bulbar palsy (Pena-Brooks & Hedge, 2007). Potential etiologies of flaccid dysarthria include spinal cord injury, cerebrovascular accidents, tumors or traumatic brain injury (Pena-Brooks & Hedge, 2007). Possible congenital etiologies of flaccid dysarthria include Moebius syndrome and cerebral palsy. Flaccid dysarthria can also arise from infections such as polio, herpes zoster, and secondary infections to AIDS (Pena-Brooks & Hedge, 2007). Additionally, demyelinating diseases such as Guilian-Barre syndrome and myotonic muscular dystrophy can also lead to flaccid dysarthria (Pena-Brookes & Hedge, 2007). The lower motor neuron lesion results in loss of voluntary muscle control, and an inability to maintain muscle tone. Fasciculations, or twitching movements, may occur if the cell body is involved in the lesion (Seikel et. al., 2010). The primary speech characteristics of flaccid dysarthria include imprecise consonant production, hypernasal resonance, breathiness, and harsh voice (...
Canavan disease first begins to appear in infants within the first few months of life. Between ages three to five problems with development, controlling head movement, and sitting without support begin to appear. Delay in motor skills also show. These symptoms are caused by the la...
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
Nonspeech signs associated with hypokinetic dysarthria may include characteristics dealing with the face, eyes, hands, arms, and trunk. The individual may have an expressionless look to their face as well as weakness with gestures in the hands, arms, and face that would normally match the person’s prosody when speaking. Overall, their social interaction with others can be emotionless. Eye blinking occurs less frequently than normal and their head gaze does not match where their eyes are looking. These patients swallow infrequently which leads to drooling. A tremor may be present in the jaw, lips, and tongue as well as limited movement during speech even though strength of these structures is often normal.
Canavan Disease is a fatal neurological disease where there is significant damage to the nerve cells in the brain. There is a defect in the myelin sheath that causes many problems for the nervous system. The major problem is caused when the enzyme aspartoacyle is not present. This missing enzyme causes a chemical imbalance that causes this defect in the myelin sheath. The myelin in the brain destructs which makes it a spongy tissue. This causes overall muscle weakening and slower movements, leading to severe mental retardation. A recent study has shown that the cells in the brain that are responsible for making myelin sheaths (oligodendrocytes), cannot complete the task. When babies are born they may not show any signs at all until the first few months. This disease is only inherited and categorized under a group of diseases called leukodystrophies. Leukodystrophies gets its name because it means there is a degeneration of myelin, which is a fatty cushioning that shields nerve fibers. This makes the nerve signals very difficult to transmit. People with Canavan Disease life span can range from a couple days, months, or maybe even until their twenties (Genetics Home Reference, n.d.); (Canavan Foundation, n.d.).
As a child growning up, a lot of you may have had these certain condition. I think these the the normal conditions of a child in general. All children may not experience these certain condition at the same time in life, but I am sure nearly all ch...
Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
ALD has many different symptoms; some of the symptoms can be triggered as early as two years or as late as twelve but, the normal symptoms start between the ages of 4 to 10 and can include change in muscle tone, crossed eyes, decreased understanding of verbal communication, detoration of hand writing, difficulty at school, difficulty understanding spoken material, hearing loss, hyperactivity, progressive nervous system detoration, coma, decreased fine motor skills, seizures, and visual impairment or blindness(Lohr, DR. John T). If you recognize or detect any of these symptoms in your child you should immediately take them...
The earliest symptoms of ALS are weakness of the muscles, which is to be expected. These types of symptoms can involve having trouble swallowing, cramping, or stiffness of certain muscles. As the disease progresses, patients lose the ability to control all voluntary movements. Generally, sensory nerves and the autonomic nervous system are unaffected, meaning that individuals with ALS can hear, see, touch, smell, and taste properly. The types of muscles you are able to control by the early symptoms, all depends on which motor neurons are damaged first. The most common motor neurons that get damaged early on are the ones called “limb onset,” which have to do with the arms and legs. As expected, people with “limb onset” experience trouble when walking and running, such as stumbling, tripping, or dragging of the foot. Other types of “onsets” that ALS patients might experience, is “bulbar onset” and “respiratory onset.” Bulbar onset ALS patients have a difficulty time speak...
Angelman syndrome has symptoms that can be easily mistaken for cerebral palsy or autism. Symptoms of the disorder include developmental delay, lack of speech, seizures, walking and balance disorders, sleep disturbances, hyperactivity, and frequent laughter or smiling. If a baby or child is diagnosed with Angelman syndrome, they will require life-long care due to the fact that there is no cure. Due to having similarities with autism and cerebral palsy, Angelman syndrome is often misdiagnosed. Misdiagnoses are a prevalent problem today, which can also lead to late diagnoses as well.
In the 1960’s, an Austrian pediatrician, Dr. Andres Rett, recognized a few of his female patients with similar indications of having some type of neurologic disorder but did not fit the cerebral palsy classification (Zoghbi, 2002). Without the knowledge of earlier research, a Swedish physician, Bengt Hagberg, began to openly speak about his observations similarly to Dr. Andres Rett records (Zoghbi, 2002). Bengt Hagberg observed numerous of female patients with this unknown syndrome and was curious in their wringing hand movement that no textbook had information on. In June 1981 Dr. Neil Gordon hosted a board meeting of the European Federations of Child Neurology Societies in Manchester and Bengt Hagberg had the opportunity to share his studies there. The discussion group had other pediatric neurologists that had seen the same behaviors but they all were unable to categorize it into its own identity. As years past, this syndrome has increased and neurologist began to evaluate this syndrome t...
The neurological disorder is generally diagnosed in children aged between six and twelve years, the condition affecting boys three times more often than girls (Hamilton, 2002; Gardner, 2008). Despite the fact that DCD affects roughly 6.4 percent of children, few individuals are familiar with the condition (Hamilton, 2002). In fact, a study by Kirby, Davies, & Bryant (2005) revealed that only 54.3% of teachers and 26.7% of general practitioners could accurately define DCD (p. 124). In response, the condition will be briefly outlined here.