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Conditions

Neuromuscular conditions are conditions that affect your nerves and muscles. This can be in a number of different ways. There are lots of different types of neuromuscular conditions and within this a lot of different conditions, many of them are very rare. Some of the most common types that you might have heard about are below where you can also find links to more information about conditions. Talk to your team if you have any questions or are not sure about your condition.

Muscular Dystrophies  are a group of inherited genetic conditions that gradually cause the muscles to weaken, leading to an increasing level of physical disability. There are several different conditions and they differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Conditions include Beckers, DMD, Myotonic Dystrophy, FSH MD, Limb Girdle MD, Nemaline and Emery Driefuss.

Neuropathies are not a single health condition but rather a term used to describe a range of health problems involving damage to the peripheral nerves. More than 100 types of peripheral neuropathy have been identified, each with its own symptoms and prognosis. Symptoms vary depending on the type of nerves-motor, sensory, or autonomic-that are affected. Motor nerves control the movement of all muscles under conscious control, such as those used for walking, grasping things, or talking. S ensory nerves transmit information such as the feeling of a light touch, temperature, or the pain from a cut. Autonomic nerves control organs to regulate activities that people do not control consciously, such as breathing, digesting food, and heart and gland functions. Conditions include Charcot Marie Tooth, Hereditary Motor Sensory Neuropathy, HNPP and SMA.

Mitochondrial refers to a group of genetic metabolic disorders that affects the mitochondria. Mitochondria are small structures in the cells of your body that produce energy. They make energy by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are affected, and where they are in the body. Sometimes only one organ, tissue, or cell type is affected. But often the problem affects many of them. Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common. The disease can range from mild to severe.

Myasthenias includes Congenital Myasthenia which is a genetic condition which causes problems with the way the messages are transmitted from the nerves to the muscles, causing weakness (myasthenia) and causing the muscles to tire easily (fatigue). There is also Myasthenia Gravis which is an autoimmune disease which results from antibodies that block or destroy nicotinic acetylcholine receptors at the junction between the nerve and muscle. This prevents nerve impulses from triggering muscle contractions, leading to weakness and fatigue.

Skeletal Muscle Channelopathies are a group of rare, inherited conditions caused by changes in ion channels that either increase or decrease the muscle membrane excitability.  Conditions includes Myotonia Congenita, Paramyotonia Congenita, Hyperkaleamic Periodic Paralysis, Hypokaleamic Periodic Paralysis