Hyperkalemic Periodic Paralysis, also known as HYPP, is caused by a mutation of the SCN4A gene. The SCN4A genes job is to give instructions to make a protein that gives muscles the ability to move, like the skeletal muscles. Normal muscle movements include the tensing up and easing of muscles in a coordinated way. When these muscles tense up a flow of positively charged sodium atoms are released into the muscles. The SCN4A protein builds pathways that regulate the flow of sodium into these cells.
Mutations result in change of the original structure and function of the sodium pathways. The transformed pathways stay open too long or do not stay closed as long as needed. This gives way to more sodium ions entering into the muscle cells. All
There are more plausible solutions such as a lack of medical knowledge, convulsive
So, the result was presented as the emergence of paralysis in the affected areas. Initial blockage of sodium ion channel totally deactivated an entire process in the neuromuscular junction. In other words, sodium ions mainly influence to the action potential generated in muscle cells, so TTX may inhibit muscle activity
Caused by a the gene CFTR that is attached to chromosome 7. This gene produces the protein CFTR that is associated with the ATP Binding Cassette family which controls transmembrane transporting. CFTR is an anion and uses the ion channel to allow flow of those ions in and out of the cell. Meaning, it plays a specific role in absorption and secretion. When this gene has been mutated, it is unable to perform effectively, leaving exocrine based organs unprotected.
Upon reviewing the given case study following factors identified, that the condition status: progressive Risk factor: age 23 yr. (young age), woman Observation: ptosis, sneering while smiling Reflexes: within normal limits Sensation: Within normal limits Weakness of the bilateral arm increased after exercise Symptoms: Intermittent facial muscular weakness, diplopia in late evening, dysphagia, and bilateral weakness increased after strenuous activity On behalf of the available information most probably condition could be a Nero, muscular disorder, Myasthenia Gravis .Condition could be confirmed by diagnostic test such as Tension Test, electromyography and presence of
1. Introduction Absence Seizures have been a medical concern for a long time, and were first described in medical literature back in 1705 by Poupart (Temkin, 1971). According to The World Health Organization (WHO) at least 40 forms of epilepsy have been identified, and they are characterized by an abrupt and transitory synchronization of neuron activities, whose causes are not always well known. 2.
Mutations in ATP7B gene lead to an abnormal ATPase protein which is incapable of removing excess copper leading to its accumulation in different tissues. So far 500 mutations have been reported [9]. The consequences can be very fatal, if not diagnosed and treated properly as it can lead to irreversible damage to brain and liver
Is it a mutation? A genetic tendency triggered by other factors? PKU is caused by mutation in the genes that make an enzyme called phenylalanine hydroxylase. This certain enzyme is needed to convert the amino acid into other substances the body needs to function properly.
Muscular atonia (paralysis) is believed to be a built in defense mechanism that keeps humans from physically acting out the visuals which are experienced while dreaming. Michel Jouvet carried out a study in which a cat’s muscle inhibition nerve was severed, this resulted in the cat running, and playing even though it was in a deep stage of
Genetic Basis Achondroplasia is a genetic disorder in that cartilage is not able to form into bone during development. There is a genetic mutation that happens in Chromosome 4. The mutation that happens is in the FGFR3 gene, which codes for the development of the protein Fibroblast Growth Factor Receptor 3. This protein aids in developing bone tissue and in this mutation the protein becomes overly active (Rosseau et al. 1994).
3. Review of Literature 3.1 Parkinson’s Disease7 Parkinson's disease (PD) is a neurodegenerative disease comprising of a spectrum of motor as well as non-motor manifestations. The classic motor manifestations of the disease include rigidity, rest tremors, bradykinesia and impairment of the gait. Along with these cardinal features of Parkinson’s disease, freezing of gait, postural instability, speech difficulty, autonomic disturbances, sensory alterations, mood disorders, sleep dysfunction, cognitive impairment, and dementia are associated manifestations. The median age at diagnosis is 55 years.
Introduction Autonomic dysreflexia (AD) is a condition that occurs in people with spinal injuries. This condition causes irregular heartbeats, high blood pressure, changes in skin color, sweating and muscle spasms. This condition is usually triggered by something and gets better once that trigger is removed. AD is a medical emergency and must be treated quickly. Untreated AD can lead to a stroke, heart attack, or seizure.
Duchenne Muscular Dystrophy affects the DMD gene. This gene creates the protein dystrophin which helps strengthen muscles in the diagnosed patient’s skeletal and cardiac muscles, and also strengthens some small nerve endings near the brain. Dystrophin is what holds the muscle cell’s framework together, and works with other genes to protect the muscles from injuries when they contract and relax. It also plays a part in cell signaling by interacting with proteins that correspond with the brain. Doctors and scientists say that the DMD gene is especially imperative for normal muscle structure and connections using cell-to-cell communication.
“Protein Substitutes for children and adults diagnosed with Phenylketonuria” (Intro): Phenylketonuria, which is commonly known as PKU, is usually caused from an inherited gene, passed down from both parents, that increases the levels of phenylalanine in the bloodstream. Phenylalanine is the building block of proteins that is obtained through the diet. Phenylalanine is found in all protein food sources and even some artificial sweeteners. This disorder is very important because if it is not treated, it could lead up to intellectual disability and other serious health problems. Nutritional supervision is very important when dealing with PKU because of the need to improve patient’s growth, development, and diet obedience.
Sleep paralysis is a frightening phenomenon in which a person suddenly wakes up and finds that they are paralyzed and unable to speak for a few minutes. About 90 minutes into sleeping, we all go through a phase known as ‘Rapid eye movement’, also known as REM, where dreams are most intense and a specific hormone is secreted and special neurotransmitters are then released which paralyze all our voluntary muscles to prevent our bodies from injuring ourselves while acting out our dreams; this is called REM atonia. During sleep paralysis, the waking stages of sleep and the REM overlap, so that the person is still experiencing normal REM components (dreaming, muscle paralysis), except the brain is fully conscious and wide awake, which is why the
The episodes of numbness in the chin and lower lip and the sensations of prickling (pins and needles) at the right corner of her mouth are due to the alterations in the functions of somatic nervous system. Hypoesthesia is a state of loss or decreasing the capacity of sensation in general and skin in particular. The hypoesthesia is characterized by an insufficient response against the stimulus. Paresthesia is state where the individual felt a sensation of numbness or creeping. It usually occurs in the extremities of limbs and other parts of the body such as mandible or upper jaw.