Mitochondrial Disease Mitochondrial Diseases- a disease that can cause your mitochondria’s to malfunction. There are many different forms of mitochondrial disease. The mitochondria can be found in almost every cell of the body. The mitochondria is also known as the “powerhouse” of the cell because it creates energy for the cell.The mitochondria is responsible for generating over 90% of the energy that is required by the body for it to work properly. When the mitochondria is not working correctly, less and less energy is generated in the cell, causing cell injury and eventually cell death. If the process continues throughout the body, they whole body begins to malfunction. Because the brain and muscle require a lot of energy mitochondrial disease usually affect these parts of the body and cause encephalomyopathies or brain and muscle disease. It can also affect other parts of the body. Depending on which cells are affected, symptoms may include muscle weakness, heart failure, dementia,(alzheimer's diseases) gastrointestinal disorders and …show more content…
In some cases, symptoms and signs could point to a certain mitochondrial disease. Physical examination and laboratory tests are necessary to characterize involvement of various organs and to reach the correct diagnosis. Lab test typically include: blood tests, brain MRI or CT scans, heart tests , ophthalmological and neurological evaluations, and hearing tests. Muscle biopsy is the best way for diagnosis of many mitochondrial diseases. It requires specialized microscopic analysis and biochemical tests, such as measurements of mitochondrial respiratory chain enzyme activities.Finally, genetic testing of blood, urine, or muscle is performed to determine the exact mutation responsible for a specific
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
For the lab test part, in this case we can do a muscle biopsy on him. A muscle biopsy is a procedure that removes a small sample of tissue for testing in a laboratory. The test can identify the disease is caused by nerve or by the muscle atrophy.
As motor neurons degenerate, this obviously means they can no longer send impulses to the muscle fibers that otherwise normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look thinner as muscle tissue atrophies (Choi, 1988).
Chronic Wasting Disease is a highly transmissible, deadly neurodegenerative disease that affects cervids in North America (Belay et al., 2004; Saunders et al., 2012). There are only four types of cervid that are known to get this disease which include elk, mule deer, white-tailed deer, and moose (Chronic Wasting Disease Alliance). It has been classified has a transmissible spongiform encephalopathy (TSE), otherwise known as a prion disease (Belay et al., 2004). A prion is an irregular, pathogenic agent that causes abnormal folding of specific proteins called prion proteins. These proteins are mostly located in the brain (Chronic Wasting Disease Alliance). The abnormal folding of this protein causes neurodegenerative diseases in a variety of species including humans, sheep, cattle, and deer (Abrams et al., 2011).
Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs.
...m protect their families from this disease.A blood test can distinguish Tay-Sachs carriers from non-carriers. Blood samples can be analyzed by either an enzyme test or DNA studies. The enzyme test is a biochemical test that measures the level of Hex-A in a person's blood. Carriers have less Hex-A in their body fluid and cells than non-carriers, but babies with Tay-Sachs disease have a complete absence of Hex-A in their cells. The biochemical test is able to detect all Tay-Sachs carriers of all ethnic backgrounds.
“Dystrophy,” originally coming from the Greek “dys,” which means “difficult” or “faulty, and “trophe,” meaning “nourishment” holds the interpretation “poor nutrition.” Today we know poor nutrition is not the cause of Muscular Dystrophy (“Myotonic Dystrophy”). Muscular Dystrophy is a genetic disorder that affects between 500-600 newborns each year in the US (Statistics on Muscular Dystrophy). In general, this disorder weakens your skeletal muscles, and eventually they degenerate. Muscular Dystrophy also has several specific types within the disorder, such as: Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Myotonic Dystrophy. Each one has their own specific characteristics.
Parkinson's is an idiopathic, multifactorial neurodegenerative disease that attacks neurotransmitters in the brain called dopamine. Dopamine is concentrated in a specific area of the brain called the substantia nigra. The neurotransmitter dopamine is a chemical that regulates muscle movement and emotion. Dopamine is responsible for relaying messages between the substantia nigra and other parts of the brain to control body movement. The death of these neurotransmitters affects the central nervous system. The most common symptoms are movement related, including shaking, rigidity, slowness of movement and difficulty with posture. Behavioral problems may arise as the disease progresses. Due to the loss of dopamine, Parkinson's patients will often experience depression and some compulsive behavior. In advanced stages of the disease dementia will sometimes occur. The implications of the disease on the anatomy and physiology of the respiratory and phonatory systems significantly control speech.
Doctors need a sure way to diagnose the disease before treatment or studies can be done. The diagnosis is an autopsy of brain tissue examined under a microscope. In addition, medical history, a physical exam, and mental status tests are used for diagnosis (Posen, 1995). Often, tests are done to rule out other potential causes of the dementia. This allows the identification of other causes of thinking and behavioral changes to be made before concluding that the patient has Alzheimer’s or another form of dementia. The tests that are requested to be done include CT and MRI scans to rule out strokes or brain tumors which could account for change in memory and behavior; thyroid and psychological tests which can also detect thinking and behavior problems (Posen, 1995).
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
...a continuous flow of ATP. In order to support a constant flow of ATP, the mitochondria are concentrated at synapses. If these changes in the organelle functions continue in an altered state, there is a greater risk of affecting the synaptic plasticity. In addition, the “paucity of mitochondria causes the synaptic dysfunction in dendrites and axons” (2). Therefore, synaptic mitochondrial dysfunction is indicative of Alzheimer’s pathogenesis (2).
There are numerous theories regarding what causes Parkinson’s disease, such as Lewy bodies; these are proteins that are abnormal and aged, accumulated together. Another theory is pointing towards oxidative stress; this is when there is a loss of ability with the Dopaminergic neurons in processing excess amounts of toxic free radicals, leading to their death. Mitochondrial dysfunction and inflammation in ...
Without this vital dopamine nerve cells cannot properly transmit messages resulting in a loss of muscle function.Parkinson's Disease is a non-communicable disease and doctors have not yet found out whether or not it is a hereditary disease. Parkinson's Disease has many distinct symptoms. The symptoms are:Muscle Rigiditystiffness difficulty bending arms or legsunstable, stooped, or slumped-over posture loss of balancewalking pattern changesslow movements difficulty beginning to walk difficulty initiating any...