Neuromyotonia Is An Extremely Unusual Disorder

A voltage-gated sodium ion channel opens when there is a change in the voltage of the membrane and allows sodium ions to flow across its electrochemical gradient. These voltage-gated channels are made up of amino acids and they aid in generating and moving an action potential down a membrane or axon (Brooker, Robert, 106).

The first symptoms of this ailment include variable degrees of weakness or tingling feelings in the legs. In many cases, the weakness and uncharacteristic sensations spread to the arms and upper body.

Myoclonus is the sudden and quick movement of your muscles, which may include muscle jerks, twitches, or spasms that happen without your control (involuntary). Myoclonus is usually a symptom of an underlying condition, including:

Myotonic dystrophy (DM) is a disorder that affects multiple systems in the body. The disease is broken down into two categories, myotonic dystrophy I & II. Myotonic dystrophy can be responsible for deterioration of smooth and skeletal muscle, central nervous system, endocrine, cardiac, and ocular systems. Myotonic dystrophy can contrast from mild to severe, and has “been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital” (Bird et al., 1999). Myotonic dystrophy is a multisystem disease damaging to the muscles, heart, brain, eyes and other organs. Myotonia is defined by the stiffness and tightness of the muscles causing some muscles to stay in the contracted position much longer than

Myotonic dystrophy, unlike other types of muscular dystrophy, does not show many symptoms in childhood and allows people to be fairly independent for the most part of their life. However, when symptoms of MD do start to develop a patient may have to use a wheelchair, when the person is a child, enroll in special education programs, take insulin supplements, as well as other medications.

A muscular dystrophy is a group of diseases that is associated with progressive weakness and loss of an individual’s muscle mass. The condition causes the abnormal genes to interfere with the production of proteins needed to form healthy muscles. There is no medical cure for muscular dystrophy and related diseases, but strategies such as medication and therapy are used to manage the symptoms and slow the course of the disease. There are more than 30 types of muscular dystrophy, and the difference is based on the genes that cause it, the age when the symptoms appear first, how quickly the disease progresses and the muscles it affects (Tecklin, 2015).

Muscular Dystrophy (or MD) is a general term representing more than 30 inherited diseases and subcategories that affect the skeletal, and in some cases involuntary, muscle regions (Hegde, 2012). The gene is recessively X-linked, meaning that females are carriers of the mutation even if they do not have the disease, and males will either have it or not. The X-linked characteristic of MD is the reason why most types are seen more abundantly in males. MD can lead to the symptoms seen in the 1800s; inability to walk or function properly, substantial weakness, and potentially death. The reason behind differencing types of MD is because no one case is the same; they are categorized based of the areas of the body that are affected, the ages that symptoms become present, and the level of intensity of the disease. Duchenne Muscular Dystrophy is present only in boys, from birth; however, symptoms do not usually show until the ages of 3-5. Another widely existing disease is

The patient denies any history of muscle disease. He has not really noted any twitching, fasciculations. He denies any neck or back pain.

Introduction. In light of recent evidence that cancer is part of the myotonic dystrophy (DM) phenotype, we assessed the prevalence of benign and malignant tumors among patients enrolled in the UK DM patient registry, and evaluated factors associated with their development.

The methods included the use of electrodiagnostic testing, repetitive nerve stimulation along with single-fibre electromyography. The aim of this experiment was also to compare the difference of efficacy between the therapeutic plasma exchange and the intravenous immunoglobulin techniques. The clinical trial was performed on 110 MuSK MG patients and a follow-up of 5.3 to 11 years was achieved. The results showed that for this particular clinical trial, the therapeutic plasma exchange had an improvement among 93% of the patients whereas a positive outcome of only 61% was present among the patients treated with intravenous immunoglobulin. However, several side effects were observed and they include marked fasciculations, cramps or even worsening symptoms. 41% patients have had at least one complication after the beginning of the treatment, the most common causes being infection, non-compliance, reduction in intravenous immunoglobulin therapy or even coincidental

Myotonic dystrophy is one of the most common muscle disorders in the world that affects one’s muscles and makes their whole body weak. Myotonic dystrophy is a dominant inherited trait. Having one copy of the gene in each cell will cause the disorder and it is located on the long arm of chromosome nineteen. There are two types; type 2 of myotonic dystrophy is less harmful than type 1 and it affects one in eight thousand people in the world, usually between the ages of twenty and thirty. Symptoms include weakness in the face, neck, hands, and legs. Sometimes people will get cataracts and an irregular heartbeat, and if men have myotonic dystrophy, they might not be fertile to produce a child. If a baby is born with myotonic dystrophy, they will

Loss of that nerve leads to weakness and wasting of the muscle”. (Kennedy's Disease Association, 2010-2016) Muscular, would be cramps tightening of large muscle spasms, Thoracic is the male getting enlarged breasts, Endrocrine, loss of masculinizing effect, and Genito-Urinary, ED (erectile dysfunction), and low sperm count. Which includes weakness/cramps in the limbs, face, mouth, tongue muscles are weak, difficult with speech and swallowing, twitching, numbness, enlarged breasts, and infertility.

Introduction. Compound Muscle Action Potential (CMAP) scan is a noninvasive promissory technique for neurodegenerative pathologies diagnosis. It allows a quick analysis of the muscle action potentials in response to motor nerve stimulation, by electrical stimulation applied on the surface of the motor nerve and response evaluation by surface Electromyography (sEMG) at muscle level. Each motor unit (MU) of muscles has a different stimulus intensity (SI) at which it is activated, meaning that MUs have different thresholds. Varying the intensity of the stimuli applied, gradually increasing from subthreshold to supramaximalvalues, will sequentially activate all MUs in the muscle. This way, it is possible to obtain a graphical representation of the evoked action potentials amplitude in the muscle versus the stimulation intensity.

Many illnesses and diseases can affect the function of the neuromuscular junction (NMJ). The diseases and illness that affect the neuromuscular junction can either affect the post-synpatic or pre-synpatic area. A disease that is known to affect the pre-synpatic neuromuscular junction complex is called autoimmune neuromyotonia, which is also known as Isaacs’ syndrome. Autoimmune neuromyotonia is an inflammatory disorder that is distinguished by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity and hyperexcitability of the motor neurons(Kiernan, 2014). According to Neuromuscular junction in health and disease by N. P. Hirsch, “Isaacs’ syndrome is characterized by focal or generalized myokymia

Myasthenia Gravis is a chronic disease, where the muscles weaken. It is caused by a breakdown in the normal communication between the nerves and muscles. This can be present in anyone at any age, but more common in women younger than 40, men older than 60.