Hypokalemic periodic paralysis also known as HOKPP or HypoPP is a condition that causes episodes of muscle paralysis associated with a fall in blood potassium levels, which in technical terms is hypokalemia. Episodes typically involve a temporary inability to move muscles in the arms and legs due to the lack of ions that should be received by the muscles. The first attack usually occurs in childhood or adolescence and can last for hours or days. The frequency of attacks varies among affected people. The frequency is usually highest between the ages of 15 and 35 and then decreases with age.
HOKPP can be caused by mutations in three genes which are CACNA1S, SCN4A, or KCNJ18, which I will explain their cytogenetic location. The CACNA1S gene provides
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instructions for making calcium channels that are abundant in muscles used for skeletal muscle movement. For the body to move normally, these muscles must contract and relax in a coordinated way. The SCN4A gene also known as the sodium voltage- gated channel alpha subunit 4, which provides instructions for making the critical subunit of sodium channels that are abundant in muscles used for movement. For the body to move normally, these muscles must contract and relax in a coordinated way like the CACNA1S gene. Now the KCNJ18 gene that has inward rectifier potassium channels that are characterized by a greater tendency, allows potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. All three of these genes, including any other gene in a human body, have a cytogenetic location which is based on a distinctive pattern of bands created when chromosomes are stained with certain chemicals. Which is what we did with the lab on DNA and Cancer by using the gel electrophoresis. We used proteins to stain the gel and then under a UV light we were able to see the DNA and Cancer that was produced. With cytogenetic location, we are looking at a distinct part of a gene on a chromosome; so for the CACNA1S gene, the location is 1q32.1, which in easier terms is the long arm of chromosome 1 at position 32.1. The location for SCN4A is 17q23.3, which is the long arm of chromosome 17, position 23.3 and then the KCNJ18 gene is located on chromosome 17 position p11.2. Muscle contractions are triggered by the flow of ions into muscle cells.
Mutations that cause HOKPP affect the usual structure or function of ion channels, impairing their ability to regulate the flow of ions into muscle cells. This then reduces the ability of skeletal muscles to contract, causing the weakness and paralysis associated with HOKPP.
Signs and symptoms of HOKPP are characterized by attacks of muscle weakness or loss of muscle movement, otherwise known as paralysis that comes and goes. The weakness or paralysis is most commonly located in the shoulders and hips, affecting the muscles of the arms and legs. Muscles of the eyes and those that help you breathe and swallow can also be affected. While muscle strength is usually regained between attacks, repeated episodes can lead to persistent muscle weakness later in life.
Some symptoms are of course muscle weakness, there can be the loss of muscle movement and the attacks of the individual will vary, some people have attacks every day, while others have them once a year. Attacks usually last at least a few hours, to sometimes days. Attacks can occur without warning or they may be triggered by factors such as meals rich in carbohydrate, rest after exercise and prolonged immobility. Attacks usually begin in childhood or adolescence, and the frequency of attacks varies with
age. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. There are plenty sources to help people learn about medical research and ways to get involved so that diseases like HOKPP and cancer can be cured. With treatment, there will be relief of symptoms and prevention of further attacks. Medication that can be taken for HOKPP are acetazolamide which is suggested to be taken with potassium supplements, and triamterene or spironolactone to help prevent attacks. HOKPP response well to treatment by preventing, and even reversing, progressive muscle weakness. Although muscle strength is initially normal between attacks, repeated attacks may eventually cause worsening and permanent muscle weakness between attacks.
Pain behind the ear on the affected side of the face which may occur a day or two before the paralysis begins.
Symptoms: Up to the age of 1-3 years, affected boys have normal muscles that is they learn to stand and walk later than they are supposed to do and speech may be slow in development. Gowers sign is a sign that can be seen in boys. Hypertrophy of the calf muscles is also a characteristic sign of DMD (Alan E H Emery., 1998). Contractures at the knees and elbows are common and it will lead most boys to use wheelchairs by the age of 10, and end them dead before or at the age of 20. The commonest cause of death is cardiac muscles involvement that will lead to cardiac faliure and subsequentl to respiratory failure (Pryse-Phillips, William E. M. and Murray, T. J., “ A concise textbook Essential Neurology”. 4th ...
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).
Nonspeech signs associated with hypokinetic dysarthria may include characteristics dealing with the face, eyes, hands, arms, and trunk. The individual may have an expressionless look to their face as well as weakness with gestures in the hands, arms, and face that would normally match the person’s prosody when speaking. Overall, their social interaction with others can be emotionless. Eye blinking occurs less frequently than normal and their head gaze does not match where their eyes are looking. These patients swallow infrequently which leads to drooling. A tremor may be present in the jaw, lips, and tongue as well as limited movement during speech even though strength of these structures is often normal.
Because symptoms are wide - ranged and studies for treatment of FMS did not begin until the 1980's, it is one of the most popularly misdiagnosed conditions in the medical world. The main symptoms are widespread pain and fatigue as well as tender points on the body. The muscular pain often may feel like a pulled muscle and may burn or twitch. (Source 3)
Wolf-Hirschhorn syndrome (WHS), first described by Wolf et al[1] and Hirschhorn et al[2], results from the hemizygous deletion of the distal short arm of chromosome 4. Due to the complex and unmarked expression of this disorder, the WHS syndrome is presumed to be a contiguous gene syndrome with an indeterminate number of genes responsible for the phenotype i.e. a multigenic etiology. [3][4]
In 1993 a consortium of researchers who worked on the DNA samples from families in the Lake Maracaibo region of Venezuela, an area with a high density of HD and significant consanguinity, reported the successful discovery of the gene responsible for the occurrence of this disease, present in chromosome 4 and named it as IT15 (Interesting transcript #15). IT15 later called as the Huntingtin gene (HTT) [2]. HTT is ~10 kilobases (kb) long and translated into a protein of 3144 amino acids with anticipated molecular mass of 348 kDa. Huntigtin protein is expressed in in human and all mammalian cells, where brain and testis has the highest concentration; liver...
... damaged neurons. (Mayo clinic, 2014). This is called neuroplasticity, the ability for the nerves to compensate for damage caused by some outside force. Because of neuroplasticity physical training works to cure some of the paralysis left by the virus and allows us to walk again after the legs or another appendage is deformed or damaged.
Amyotrophic lateral sclerosis, or ALS, is a degenerative disease affecting the human nervous system. It is a deadly disease that cripples and kills its victims due to a breakdown in the body’s motor neurons. Motor neurons are nerve cells in the brainstem and spinal cord that control muscle contractions. In ALS, these neurons deteriorate to a point that all movement, including breathing, halts. Muscle weakness first develops in the muscles of body parts distant from the brain, such as the hands, and subsequently spreads through other muscle groups closer to the brain. Such early symptoms as this, however, can hardly be noticed.
Having aching muscles in the back, arms and legs. A person may experience chills and sweats, headaches, and a dry persistent cough. Along with having fatigue and a sore throat.
When a person begins to suffer from Guillain- Barre Syndrome their myelin sheath of their nervous system is being attacked and destroyed by the immune system (NINDS, 2011). The myelin sheath begins to lose its ability to transmit signals rapidly and affectively. Since signals are not getting transmitted to the brain fast enough, a person begins to notice fewer sensory responses from the rest of the body (NINDS, 2011). A person wouldn’t be able to tell right away or at all if an item they are touching is hot, cold, or causing pain. There also wouldn’t be good signal transmission from the brain to the rest of the body (NINDS, 2011). There would be signs of the muscles being unable to respond to the weakened or distraught signals they were receiving. Since the myelin sheath is responsible for transmitting the signals from a long distance, the upper and lower extremities would be the first to show signs of muscle dysfunction.
Channelopathy refers to the diseases that are caused by a disturbance in the function of an ion channel. This greatly affects the neuron as the neuron tends to contain many ions channels which make it possible to produce an action potential. A disease that is known as a channelopathy is hyperkalemic periodic paralysis that is also known as HPP this is caused by an inherited autosomal dominant mutation in the DNA sequence. The gene that is responsible for this function is SCN4A. So just having the gene will cause the mutation to be expressed. This disease affects the sodium voltage gated ion channels ability causing inactivate problems. This causes their to be a higher concentration of potassium in the blood disrupting the setpoints to maintain
Treatment option for the disorder includes; blood transfusion, which is done to replace the affected hemoglobin, Excess iron removal from the blood stream by administering folic acid to the patient, bone mirror transplant and sometime a surgery may be required
MODY is most likely a disease of haploinsufficiency. Clues for this haploinsufficiency came from the patients with similar phenotype HNF1A MODY due to loss-of-function mutations (for example promoter or dimerization domain mutations). Furthermore the demonstration that NMD results in the destruction of several transcripts having PTCs, and because of NMD sometime whole gene gets deleted and this whole HNF1A gene deletions may cause MODY, RCAD caused by HNF1B mutations is also likely to be a disease of haplo insufficiency as whole gene deletions of HNF1B have been documented.
The patient has experienced fever, chills on body, headaches and anorexia as well as sweating especially during the night. The patient has also been feeling fatigued, muscle aches and nausea as well as vomiting especially after eating (WHO, 2010, p. 117). These symptoms started forty eight hours ago, and the patient has not taken any medication except for some aspirin.