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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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
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.
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.
Early symptoms of ALS are very slight and often overlooked. They begin as simple things, such as tripping or dropping things. Twitching or cramping of muscles and abnormal fatigue of the arms and legs may soon follow, causing difficulty in daily activities, such as walking or dressing. In more advanced stages, however, shortness of breath or difficulty in breathing and swallowing ensue, until the body is completely taken over by the disease. Intellect, eye motion, bladder function, and sensation are the only abilities spared.
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
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.
Pain behind the ear on the affected side of the face which may occur a day or two before the paralysis begins.
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.
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.
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