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Lou Gehrig's Disease (ALS)
Transcript of Lou Gehrig's Disease (ALS)
Prognosis Characteristics & Symptoms The disorder causes muscle weakness and atrophy throughout the body caused by the degeneration of the upper and lower motor neurons.
The earliest symptoms of ALS are typically obvious weakness and/or muscle atrophy. Other presenting symptoms include muscle twitching, cramping, or stiffness of affected muscles; muscle weakness affecting an arm or a leg; and/or slurred and nasal speech. The parts of the body affected by early symptoms of ALS depend on which motor neurons in the body are damaged first. About 75% of people contracting the disease experience first symptoms in the arms or legs.
In later stages of the disease, aspiration pneumonia and maintaining a healthy weight can become a significant problem and may require insertion of a feeding tube.
ALS is one of the major neurodegenerative diseases alongside Parkinson's disease and Alzheimer's disease. Unique Features Lou Gehrig's disease is either sporadic or genetic.
In most cases, 90-95% of patients inherit the disease spontaneously, having no previous relatives with the disease.
5-10 % of all incidences have a record of the disease in their families.
Genetic Basis Sporadic ALS
SALS is not inherited from previous family but rather a mutation in one of several genes. The cause of sporadic ALS is largely unknown but probably involves a combination of genetic and environmental factors. Familial ALS The pattern of inheritance varies depending on the gene involved. Most cases are inherited in an autosomal dominant pattern, less frequently, ALS is inherited in an autosomal recessive pattern. Inheritance Very rarely, ALS is inherited in an X-linked pattern. X-linked conditions occur when the gene associated with the condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons, since they pass down the Y chromosome. Prognosis ALS is a very difficult disease to diagnose. To date, there is no one test or procedure to ultimately establish the diagnosis of ALS.
Since the vast majority of patients do not have the hereditary type of ALS, a diagnosis of ALS is not determined by a genetic test. Instead, a neurologist makes the diagnosis after a review of a person's symptoms, a neurological exam, and results on nerve and muscle function tests. Clinically, FALS and SALS are basically identical.
60% of the people with ALS in the Database are men and 93% of patients in the Database are Caucasian.
Most people who develop ALS are between the ages of 40 and 70, with an average age of 55 at the time of diagnosis, and extremely rarely between ages of 20 and 30.
Half of all people affected with ALS live at least three or more years after diagnosis. Twenty percent live five years or more; up to ten percent will live more than ten years.
Diagnostic Procedures Tests include: Electrodiagnostic tests including electomyography (EMG) and nerve conduction velocity (NCV)
Blood and urine studies including high resolution serum protein electrophoresis, thyroid and parathyroid hormone levels and 24-hour urine collection for heavy metals
X-rays, including magnetic resonance imaging (MRI)
Myelogram of cervical spine
Muscle and/or nerve biopsy
Thorough neurological examination References http://www.neurology24.com/lou-gehrigs-disease.htm