Canavan disease (1)
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Canavan disease is a rare genetic neurological disorder that causes progressive degeneration of the brain tissue. It is caused by a mutation in the gene that produces the enzyme aspartoacylase, which breaks down the brain chemical N-acetyl-aspartate. This results in the brain tissue becoming spongy with fluid-filled spaces. There is no cure for Canavan disease and affected children experience severe developmental delays, losing abilities like crawling, walking, and talking over time. Affected children usually die before age 4, though some may survive into their teens or twenties with supportive treatment. The disease is inherited in an autosomal recessive pattern where both copies of the gene must be mutated.
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Undergraduate PDF downloads...AtaxiaProfessor Yasser Metwally
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This document discusses the differential diagnosis and management of acute and chronic ataxia in children. It describes several potential causes of acute recurrent ataxia including drug ingestion, postinfectious cerebellitis, migraine, and encephalitis. Conversion reaction is also noted as a possible cause. Chronic progressive ataxia may be caused by hereditary ataxias, brain tumors, congenital malformations, and other genetic or metabolic disorders. The document provides tables listing specific disorders that can cause acute recurrent or chronic progressive ataxia and outlines an approach to evaluating and managing acute cerebellar ataxia.Pediatric Adrenoleukodystrophy (ALD).pptx
Pediatric Adrenoleukodystrophy (ALD).pptxAndulius Aswoyo
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**Adenoleukodystrophy (ALD): Overview, Symptoms, and Treatment**
Adenoleukodystrophy (ALD) is a rare genetic disorder that affects the nervous system and adrenal glands, primarily caused by mutations in the ABCD1 gene. This mutation results in the inability to break down very long-chain fatty acids (VLCFAs), leading to the accumulation of these fats in brain cells and adrenal tissues, which disrupts normal function. ALD has a higher prevalence in males due to its X-linked recessive inheritance pattern.
There are three main forms of ALD, each presenting different symptoms and varying levels of severity:
1. **Childhood Cerebral ALD**: The most severe form, typically occurring in boys aged 4 to 10. Symptoms begin with behavioral and cognitive changes, such as poor performance in school, hyperactivity, and difficulty in understanding spoken language. As the disease progresses, it leads to motor function impairment, vision and hearing loss, and eventually, severe neurological decline.
2. **Adrenomyeloneuropathy (AMN)**: A milder, adult-onset form of ALD affecting both men and women. AMN often begins in adulthood and primarily impacts the spinal cord and peripheral nerves, resulting in gradual symptoms like muscle weakness, stiffness, and difficulty walking. Many affected individuals also experience adrenal insufficiency, causing symptoms like fatigue, weight loss, and low blood pressure.
3. **Addison-only ALD**: This form is characterized primarily by adrenal gland dysfunction, leading to symptoms of adrenal insufficiency without significant neurological impact. Patients may experience symptoms such as fatigue, nausea, vomiting, and darkening of the skin.
**Diagnosis**: ALD is typically diagnosed through genetic testing to detect ABCD1 mutations and blood tests measuring VLCFA levels. MRI and other neuroimaging techniques are used to assess brain involvement.
**Treatment and Management**: While there is no cure for ALD, treatment options focus on managing symptoms and slowing disease progression. Corticosteroid replacement therapy is essential for adrenal insufficiency management. In cases of early-detected cerebral ALD, hematopoietic stem cell transplantation (HSCT) can potentially halt disease progression. Investigational therapies, like gene therapy, are also showing promise in clinical trials. Physical therapy and assistive devices can improve mobility and quality of life for those with AMN.
**Prognosis**: The prognosis of ALD varies by form and timing of diagnosis. Early intervention can improve outcomes for cerebral ALD, while AMN has a slower progression but can severely impact quality of life.Subacute sclerosing panencephalitis in children.pptx
Subacute sclerosing panencephalitis in children.pptxNishat Tasnim
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SSPE is a rare complication of measles virus infection. Here a defective measles virus persists in the central nervous system, causing demyelination and neurodegenerative changes, which is almost always fatal. This presentation emphasis on the pathophysiology & clinical presentations of SSPE for early diagnosis, as well as to mention the available treatment options to slow down the progression of this condition.SSPE
SSPELayth Alrifai
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The best treatment to be prescribed for a 10 years old male diagnosed with Dawson's disease is a combination of intraventricular interferon alfa plus oral Isoprinosine.
Dawson's disease is another name for Subacute Sclerosing Panencephalitis (SSPE), which is a progressive brain disorder caused by a defective measles virus. The passage clearly states that a combination of intraventricular interferon alfa plus oral Isoprinosine is currently the best effective treatment available for SSPE. The other options listed are not treatments recommended for this condition.Epilepsy
EpilepsyM S
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Epilepsy is characterized by recurrent seizures caused by abnormal neuronal activity in the brain. Seizures can have various presentations depending on the affected brain region. Epilepsy has genetic and acquired causes such as brain injuries, tumors, or infections. Diagnosis involves tests like EEG, MRI, and bloodwork to identify structural or metabolic abnormalities. Treatment focuses on medications, dietary changes, surgery, or devices like vagus nerve stimulators to reduce or eliminate seizures. Identifying a patient's epilepsy syndrome provides guidance on determining causes and appropriate treatments.Canavan disease (1)
- 1. CANAVAN DISEASE What is Canavan Disease Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive. Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue pierced with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies. In Canavan disease, manyoligodendrocytes do not mature and instead die, leaving nerve cell projections known as axons susceptible and unable to properly function. Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate.(2) The diagnosis for Canavan disease is poor. Death usually occurs before age 4, although some children may survive into their teens and twenties. How is it inherited BY: JAMES GERACHE GENERAL BIOLOGY I MRS. KEES This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they characteristically do not show signs and symptoms of the condition. Children that suffer from Canavan disease cannot crawl, walk, sit or talk. Over time they may suffer seizures and become paralyzed. Due to this fact, these children are almost always wheel chair bond by the age of 2.
- 2. Resource Page 1. http://www.canavanfoundation.org/about_canavan_disease 2. http://ghr.nlm.nih.gov/condition/canavan-disease 3. http://www.medicinenet.com/canavan_disease/article.htm
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