Ataxic dysarthria is one of several types of dysarthria. “Dysarthria is a group of motor speech disorders resulting from disturbed muscular control of the speech mechanism due to damage of the peripheral or central nervous system” (Hedge, 2001, p. 198). In specific, ataxic dysarthria is a disorder that affects the control of speech production due to damage to the cerebellum or the neural pathways that connect the cerebellum to other parts of the central nervous system. McNeil (1997), states that
Down syndrome has always been defined as a genetic condition. It is also known as Trisomy 21, and it is the most common genetic cause of intellectual disability. Nelson and Gibbs (2004) said “Trisomy results from sporadic nondisjunction of chromosome 21 leading to three copies of the smallest human chromosome”. Trisomy 21 is the cause of about ninety-five percent of observed Down syndrome. Most of the nondisjunction comes from the maternal gamete while a very small amount of the nondisjunction comes
Prader-Willi syndrome was first known as Prader-Labhart-Willi Syndrome after three Swiss doctors who first described the disorder in 1956. The doctors described a small group of kids with obesity, short stature and mental deficiency , neonatal hypotonia (floppiness) and a desire to constantly eat because they are always hungry. Many other features of PWS have since been described, but extreme obesity and the health problems associated with being fat are the most prominent features. Individuals with
An Overview of the Rare Disease Known as Kabuki Syndrome As I look to graduate, I become increasingly aware that I have my entire life to look forward to. Even though I will have struggles throughout my life, I still have my well being to fall back on. When all else fails, I am and hopefully always will be self-assured that I am here, healthy and able to bring myself through the worst of circumstances. This realization and knowledge has presented itself in the most realistic way just within
(e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forearms and shins. Complications of joint hypemobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L.). In the Hypermobile type of EDS the joints of the body experience Hypermobility, which is the
Signs and symptoms Charcot Marie Tooth disease encompasses a group of inherited disorders that affect motor and sensory peripheral nerves. It is a type of neuropathy characterized by damage to myelin sheaths and nerve axon structure that results in impaired ability of the peripheral nervous system to send signals or relay sensory information. CMT typically presents with distal predominance of limb-muscle wasting, weakness, and sensory loss , . Symptoms start in the feet, which commonly have high
Olivopontocerebellar Atrophy Olivopontocerebellar atrophy (OPCA) was first described in 1900 by Dejerine and Thomas. OPCA is a group of dominant inheritance and sporadic neurological disorders characterized by a chronic, progressive, cerebellar ataxia that begins in middle age. The cerebellum and its connections are the primary sites of the disease in chronic progressive disorders that often occur in familial or hereditary patterns. Postmortem studies indicate an atrophy of the cerebellum, pons
This has more subtle representation and appears over several hours, may stop, and then reappear. They will have an altered level of consciousness, hypotonia, subtle abnormal eye position and movements, decreased spontaneous or abnormal movements and an abnormally tight popliteal angle, and in some cases respiratory abnormalities. The third category is clinically silent deterioration. This is often
Throughout the world, there are many genetic disorders that are well known to society. For example, Down Syndrome, Colorblindness and Autism are a few that people have knowledge of or know at least a fair amount of information of what those conditions are all about. Genetic conditions such as Jacob Syndrome however are rarely talked about. Even though it’s considered as minor compared to the others, it’s a genetic disorder that should still be known even if it’s just a small amount of info given
Neurobiology The two developmental neurologic disorders I would like to discuss are Sickle-cell anemia and Down syndrome. Sickle- cell anemia was named for the description of the appearance of the red blood cells of those who suffer from the disease. Johnson (2010) describes sickle as a chronic illness resulting from inadequate blood circulation that causes significant pain and ultimately organ failure and death (p. 132.) According to Feldman (2013) “around 1/10th of people of African descent
What is Spinal Muscular Atrophy? Spinal Muscular Atrophy is a disease that can destroy the “lower motor neurons in the nerve cells” (Spinal Muscular Atrophy, 2015). Spinal Muscular Atrophy affects the spinal cord that controls our everyday movement. These cells send out processes in the peripheral nerve to eventually make contact to our muscle, legs, arms, chest, breathing muscles. SMA is a very rare disease but it is the second most common recessive disease after cystic fibrosis. It is a very serious
– Observations can be used to identify individual needs by using milestones or criteria’s. These observations are mainly for intellectual development, social development, physical development and communicational development. If a child is not reaching their age and stage milestone, a number of observations can be used to identify if there is a barrier stopping the child’s development. A barrier can include an additional need. This can range from hard of hearing to autism and so on. Things such as
I. Finding out about suffering from a serious illness can be upsetting, shocking, and overwhelming, and people often ask themselves questions such as “Why me?”,” What is my future going to be like?” There is no right or wrong way to react to the diagnosis provided by the physician. Some people go silent, because they can’t believe what they are hearing and they don’t know what to say or do, others feel emotional, and some become angry and scared. The endocrine disorders are common, and it is not
Down Syndrome is also (or formally) known as mongolism, and is the most frequent chromosomal abnormality in the United States. Over 350,000 people carry this condition. It is caused by an extra 21st chromosome. This is also known as trisomy 21. Instead of 46 chromosomes in each cell it was determined that an extra 21st chromosome affected Down syndrome, this occurs 95% of the time. There are three copies of this chromosome. It is causes by a cell error called non-disjunction. Two other types are
Cameron Alexander Mrs. Schroll 3rd period Monday, May 5th Canavan disease Canavan disease is an inherited disorder that causes progressive damage to the nerve cells in the brain. It is in the group of rare genetic disorders called Leukodystrophies. Leukodystrophies are characterized by the degeneration of myelin, which is the fatty covering that insulates nerve fibers. The myelin is necessary for rapid electrical signals between the neurons. I chose this disease because I had never heard of it and
more susceptible to having a child with DS. The prevalence of DS in Canada, is approximately 1 in every 800 live births. It is often diagnosed in early infancy by the examination of specific characteristics linked to the baby’s appearance – such as hypotonia (low muscle tone), palmer’s crease, slightly flattened facial profile, an upward slant to the eyes, small mouth, and protruding tongue. (HudsonAlpha, 2012) However, prenatal screening and blood tests can also determine if the baby is at any subsequent
different some symptoms will overlap between the stages(Signs and Symptoms: Stages). Stage one describes the changes that typically appear in the first six to 18 months of the infant's life. These include a general slowness in development; floppiness (hypotonia); difficulty feeding; abnormal hand movements (such as repeatedly making wringing, clapping or washing motions with the hands); lack of interest in toys; poor coordination of
Factors that Negatively Effect Fetal Development Pregnant women that smoke cigarettes on a daily basis can greatly harm their fetus. The Tobacco smoke in cigarettes greatly reduces fetal growth through the presence of nicotine, carbon monoxide, hydrogen cyanide, cadmium and various other aromatic hydrocarbons, but the two most dangerous chemicals that are found in cigarettes are nicotine and carbon monoxide. Nicotine causes the babies heart rate to speed up, reduces placental vascularisation
Feeling is a basic innate response to outside stimuli. It allows for any organism or human to respond to a potentially dangerous situation. Basic responses such as shivering and sweating help keep the body at its optimal temperature so that basic cellular functions can progress properly. Normally nerves transmit signals between the brain and the body to allow for communication and sensory of the outside world as well as internal ques. A vast wiring of peripheral and autonomic nerves, along with
Muscular Dystrophy (MD) is a disease that weakens the musculoskeletal system and affects the ability to move. MD also affects groups of muscles. In the 1860’s it was described that boys were progressively growing weaker, losing the ability to move and died at an early age. A decade after the first description a French, neurologist named Guillaume Duchenne gave account for thirteen boys with the most common and severe forms of Muscular Dystrophy. MD is being caused by a mutation of a gene within the