Canavan Disease: A Case Study

According to the National Foundation of the Jewish Genetic disease there are seven that all Jews should be aware of. The first is called the Blood syndrome, which is a disease causing shortness in

It tends to lessen in the later stages. When the disease occurs in childhood (less than 10% of cases) Chorea is more severe and may coincide with rigidity or muscle stiffness and movement restriction. Both chorea and rigidity interfere with coordination and mobility.

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

Boys begin to have difficulty sitting up and standing, weakness that progresses to muscles in the trunk and shoulder, and later affecting the heart muscle. By the age of twenty years individuals affected with Duchenne dystrophy die.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

SCDAAMI population includes all patients with SCD or trait from infancy to 21 year-old and their families.

To diagnose the disease there is genetic testing. They take a few cells and examine the DNA. There is no treatment for the disease currently. If you have the disease, you are destined to die early. The environment does not affect the disease. Getting it is purely chance.

TSD is common among those of Jewish decent, more specifically Ashkenazi Jews with an origin of Eastern European ancestry. Although these findings have caused TSD to be thought of as a Jewish disease, there have been occurrences in other populations, including French Canadians. There have been three unusual characteristics documented among those affected and being a part of the French Canadian population. One of the characteristics is that TSD patient were highly localized geography and there was a large amount of incidences in Eastern Quebec. The second characteristic is that TSD is caused by two mutant alleles. One of the alleles originating one the northern shore of St. Lawrence and the other on the south shore. The final characteristic is that TSD seems to be recent in its Canadian origin, as the two mutant alleles are not found in France. There have also been high incidences of TSD reported from three other population groups. The three groups can be found in Northern American and include: Louisiana Cajuns, the Dutch community in Pennsylvania, and people that are of Irish

Affected infants can’t turn over, sit, or crawl. They also get startled easy to loud noises. As the disease continues they can experience seizures, vision loss, hearing loss, intellectual disability, and even paralysis. Usually they live into only early childhood. Seizures becomes a problem between ages two and five, with death at around fifteen years of age. Age of death is usually between 2 and 4 years, often from pneumonia.

There are often difficulties with diagnosis in DMD because the symptoms may vary and where there is no family history DMD may not at first be suspected. It is quite common to see a delayed walking age with first steps being taken at around eighteen months. Once a boy with DMD is walking he may fall readily. He often has difficulty climbing (stairs for example), difficulty running and jumping, and he may develop a ‘waddling’ gait. Classic symptoms include enlargement (hypertrophy) of the calf muscles, which occurs in about 90% of cases. He may develop a tendency to walk on his toes and this is often accompanied by a protruding abdomen and sway-backed stance, called ‘lordosis’. He may experience difficulty getting up from the floor without help, he may use his hands to climb up his legs for support – this is referred to as ‘Gowers sign’. These symptoms generally begin to

Therefore, individuals that suffer from DMD will usually die in their early 20s, due to infection, heart and/or respiratory difficulties (Blake et al., 2002). During 1961-1982, data was collected on 473 Dutch Duchenne muscular dystrophy patients. By studying this data, it was shown that the median survival was 19.4 years for patients that have already passed the age of 10 years old. About 23.6% of individuals survived 23.3 years at the minimum. On average, patients died 7.9 years after becoming immobile (Essen et al.) DMD can be detected shortly after birth by examining the amount of serum creatine kinase (CK) activity within the infant. Although, diagnosis is usually made during 3 to 8 years (Jennekens FG, et al. 1991). The symptoms of Muscular Dystrophy typically appear between the ages of two and three. The symptoms include falling frequently, increased clumsiness, walking on the toes, stiffness and weakness in the muscles, mental impairment, learning disabilities and

They may develop alone or in combination, but as the disease progresses, all are usually present. There is no true paralysis. The symptoms are always bilateral but usually involve one side early in the illness. Because the onset is insidious, the beginning of symptoms is difficult to document. Early in the disease, reflex status, sensory status, and mental status usually are normal. Postural abnormalities (flexed, forward leaning), difficulty walking, and weakness develop. Speech may be slurred. Autonomic-neuroendocrine symptoms include inappropriate diaphoresis, orthostatic hypotension, drooling, gastric retention, constipation, and urinary retention. Depression is also prevalent.

The diagnosis of the disease, its cause or causes, stage, treatment and prognosis will be sought from the pediatrician. He establishes and explains the connection between the disease and the patient's family history. He prescribes appropriate medicines and medications to alleviate the patient's symptoms. The moral principles surrounding the couple's decision concerning the disease are contributed by the ethicist. He warns against the double-effect situation in this disease condition. He emphasizes that birth defects

Because CP describes a group of neurological and physical abnormalities, people affected by the disorder may have other neurological and physical problems. CP may not be noticeable at birth. Children with CP develop predictable developmental milestones slowly because of their motor impairments, and these delays in reaching milestones are usually the first symptoms (Gale Enc). Doctors diagnose CP by checking the infant’s motor skills, looking for developmental delays, and considering the child’s medical history. Many Doctors use the Early Motor Pattern Profile (EMPP) to help in their evaluations. The EMPP indicates variations in muscle tone, reflexes, and movement and is used to identify children during the first year of life who are at risk for the development of CP. The EMPP can be done during a routine office visit. Observation and minimal handling can detect abnormal motor patterns, making it quick and inexpensive. EMPP is the beginning of evaluation and intervention (“Early” 692). CP is a neurological disorder affecting motor control. It is the most common physical disability in childhood. It is a lifelong condition that varies from person to person. It can be very mild or extremely severe. There is no known cure, and the cause is not completely understood. The four main categories of CP are spastic, athetoid, ataxic, and mixed. Spastic is stiff and difficult movement. Athetoid is involuntary and uncontrolled movement. Ataxic is a disturbed sense of balance and

DCD may coincide with delays in one or more of the following areas: gross motor skills, fine motor skills, and speech production (Gaines & Missiuna, 2007). Gross motor deficits may involve problems with balance, coordination, muscle strength, reaction times, and the ability to distinguish left from right. In addition, recent research suggests an association between CDC and left- or mixed- handedness (Vasconcelos, 2009). Fine motor deficits may be associated with problems using writing implements, problems using scissors, and problems performing a variety of adaptive tasks, such as feeding, dressing, and toileting (Trawick-Smith, 2010). Finally, speech production may pertain to complications during articulation, breathing, and the utilization of grammatical structures (Carlson, 2007).