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Patient #5 ALS
Patient Background and Problems • Patient #5- Andrew, a 45 year-old single father of two, comes to you in confidence. He’s noticed that the muscles in his hands and feet have gotten progressively weaker lately, and from time to time, he sees these muscles twitch. He used to lift weights at the gym quite a bit, but he now has trouble lifting the bar. His daughter noticed that he seems to be tripping and stumbling quite often and commented that it took him quite a long time to get the key in the door the other day. Andrew claims that mentally he feels fine, but it’s almost like his muscles are slowly giving out on him. You don’t see any twitches going on right now, but you are having a hard time hearing him. He seems to be having trouble projecting his voice and his speech is slightly slurred at times.
Diagnosis • The diagnosis for patient Andrew is that he has ALS aka Lou Gehrig's disease. This diagnosis was decided by comparing the symptoms of the patient to the symptoms of the disorder. The main signs that pointed to ALS is that Andrew has weakness in his limbs showing that the disease has not progressed and moved to the trunk of the body and also his slurred speech is a symptom of ALS. However, ALS is a very difficult disease to diagnose. To date, there is no one test or procedure to ultimately establish the diagnosis of ALS. It is through a clinical examination and series of diagnostic tests, often ruling out other diseases that mimic ALS, that a diagnosis can be established. A comprehensive diagnostic workup includes most, if not all, of the following procedures: • • 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 • • spinal tap • • x-rays, including magnetic resonance imaging (MRI) • • myelogram of cervical spine • • muscle and/or nerve biopsy
What is ALS? • Amyotrophic lateral sclerosis (ALS), often referred to as "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death.
Treatment • Although no treatment slows or halts the progression of ALS, various drugs and devices are available to help control symptoms and make living with the disease easier. Conventional Medicine for ALS: • Rilutek (riluzole) is an approved drug for the treatment of ALS. How it works is not exactly known, but it seems to prevent the damage that can result from the nerve cell being overexcited by glutamate. Studies have shown it may improve functioning and survival. Because of potential side effects involving the liver, close monitoring by your doctor is required. • Physical therapy can improve circulation and help prolong muscle use in the early stages of ALS. In addition, various medications may be prescribed as the disease progresses to help with symptoms. Baclofen relieves stiffness in the limbs and throat. Muscle decline and weight loss can be slowed with nutritional supplements called branched-chain amino acids (BCAAs). Phenytoin may ease cramps. Tricyclic antidepressants can help control excess saliva production, one of the symptoms of ALS. Antidepressants may also be prescribed to help with depression, which often accompanies a severe illness. • A highly controversial experimental therapy involves synthetic forms of an insulin-like nerve growth factor called cell-derived neurotrophic factor; it may protect motor neurons and stimulate the regeneration of damaged cells.
Neurologist • One medical that could help Andrew is a neurologist. • Neurology is the branch of medicine concerned with the study and treatment of disorders of the nervous system. The nervous system is a complex, sophisticated system that regulates and coordinates body activities. It has two major divisions: • Central nervous system: the brain and spinal cord • Peripheral nervous system: all other neural elements, such as eyes, ears, skin, and other "sensory receptors“ A doctor who specializes in neurology is called a neurologist. The neurologist treats disorders that affect the brain, spinal cord, and nerves.
Neuropharmacologist • Yet another doctor who could help Andrew is a Neuropharmacologist • Neuropharmacologists use different medications to correct problems in brain function. Many use research subjects to test how different chemicals alter brain activity. Similar to neurologists, they use special dyes within the medication, along with MRIs and other brain mapping equipment to watch the effects of medications interacting with the brain. Although some neuropharmacologists work as consultants in hospitals, most work at pharmaceutical companies or at other research facilities.