 Acid Maltase Deficiency (1)
Also known as Pompe's Disease, Acid Maltase Deficiency causes heart, liver, and tongue enlargement in infants. A less severe form affects adults, weakness of upper arms and legs, trunk and respiratory muscles. This disease is autosomal recessive, meaning inherited by a defective gene from each parent.
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 Adult Spinal Muscular Atrophy (0)
Cheyanne
Adult Spinal Muscular Atrophy causes mild muscle weakness in muscles closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Progression is variable and may have little impact on life expectancy.
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Amyotrophic Lateral Sclerosis (17)
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Becker muscular dystrophy (2)
Deejay
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Carnitine Deficiency (0)
Carnitine deficiency is one of a group of muscle diseases that interfere with the processing of fats for energy production. Symptoms include weakness in the hips, shoulders, upper arms, and may include weakened facial and tongue muscles, and may include a weakened heart muscle. Other tissue systems of the body can be affected, leading to low blood sugar, growth retardation in infant or childhood onset form, fatgue, vomiting, abdominal pain, brain function abnormalities. Carnitine Deficiency can be autosomal recessive, caused by the inheritance of a defective gene from each parent,in which case it is called Primary Carnitine Deficiency; or it can be triggered by another metabolic disease, in which case it is called Secondary Carnitine Deficiency.
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Carnitine Palmityl Transferase Deficiency (0)
The symptoms of this enzyme deficiency are muscle pain, stiffness, and tenderness brought on by exercise, illness, or menstruation; rust-colored urine(myoglobinuria), and death in infancy for those who completely lack the enzyme. Prolonged intense exercise or fasting can lead to kidney damage, muscle destruction, and intensification of the symptoms listed above. This disease is usually autosomal recessive, resulting from a defective gene contributed by each parent, but it can also occur by means of a defective gene from one parent in addition to a genetic mutation.
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Central Core Disease (0)
Starts in infancy or early childhood with poor muscle tone, infants with central core disease have delays in reaching motor milestones.Other symptoms may include skeletal deformities, including joint dislocations and scoliosis (spinal curvature), often occur; susceptibility to malignant hyperthermia, a dangerous adverse reaction to anesthesia. Can be inherited from one, or usually by means of a recessive gene, both, parents. Progression varies: may be disabling.
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Charcot-Marie-Tooth (9)
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Congenital Muscular Dystrophy (0)
Onsets at or shortly after birth with generalized muscle weakness and joint stiffness or looseness. Different types of CMD may cause spinal curvature, respiratory insufficency, eye defects, seizures, and affect the brain. Congenital Muscular Dystrophy can be inherited from one or both parents or develop spontaneously due to a genetic flaw.
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Congenital Myasthenic Syndromes (0)
Can be inherited from one or both parents. Congenital Myasthenic Syndromes affect the function of processes at the junction of nerve and muscle cells.Symptoms and progression vary.
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Dejerine-Sottas (3)
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Dermatomyositis (2)
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Distal Muscular Dystrophy (0)
Onset is generally at 40-60 years of age, but can occur earlier. Slow progression. Affects muscles of the hands, forearms and lower legs. May be autosomal dominant, meaning a faulty gene is inherited from one parent; or autosomal recessive, occurring when a faulty gene is inherited from each parent.
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Duchenne's muscular dystrophy (39)
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Emery-Dreifuss Muscular Dystrophy (0)
Symptoms include weakness and wasting of shoulder, upper arm, and calf muscles, cardiac abnormalities. Emery-Dreifuss Muscular Dystrophy can be X-linked recessive, or a faulty gene can be inherited from either parent.
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Facioscapulohumeral Muscular Dystrophy (0)
Facioscapulohumeral Muscular Dystrophy is also known as Landouzy-Dejerine. Affects the muscles around the eyes and mouth, and of the shoulders, upper arms and lower legs initially, with later weakness of abdominal muscles and sometimes hip muscles. Caused by a missing piece of DNA on chromosone 4, it may be inherited through either parent, or it could occur without a family history.
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Friedreich's Ataxia (6)
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General (68)
Debrancher Enzyme Deficiency
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Hyperthyroid Myopathy (0)
Muscle damage caused by overproduction of thyroxine by the thyroid gland typically happens to people over 40 but it can strike any time. Face, throat, shoulder and respiratory muscles are all affected, and while permanent muscle damage can occur, progress of the disease can be stopped by curing the thyroid problem.
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Hypothyroid Myopathy (0)
This is caused by underproduction of thyroxine, a condition which is usually triggered by an autoimmune disease. Symptoms are weakness around hips and sometimes shoulders; slowing of reflexes; possible muscle stiffness and cramps; can cause muscle enlargement along with weakness;and/or severe breakdown of muscle tissue.Damage may not be reversable, but progression can be stopped when the thyroid condition is taken care of.
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Inclusion Body Myositis (0)
Zviad
This slowly progressing genetic disease chiefly affects men over 50 but also, less commonly, can affect women. Symptoms are weakness of the muscles of the wrists and fingers and those that lift the front of the foot; muscles of the front of the thigh. Swallowing muscles can also be affected, and some genetic forms of the disease do not have much inflammation.
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Infantile Progressive Spinal Muscular Atrophy (0)
Onset in infancy or even before birth. Symptoms include generalized muscle weakness, weak cry, trouble swallowing as well as sucking, and breathing distress, often with infant death. Loss of nerve cells in the spinal cord called motor neurons affects the part of the nervous system that controls voluntary muscle movement. Inherited by means of a recessive gene from both parents.
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Lactate Dehydrogenase Deficiency (0)
This is one of a group of muscle diseases which interferes with the processing of carbohydrates for energy production. It is caused by an enzyme deficiency and the usual onset is early adulthood. Symptoms include exercise intolerance, rust colored urine (which indicates muscle breakdown), and a skin rash.
Lactate Dehydrogenase Deficiency is autosomal recessive, caused by a faulty gene from each parent.
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Lambert-Eaton Myasthenic Syndrome (0)
Lambert-Eaton Myasthenic Syndrome is an autoimmune disease which can strike at any time, and can be triggered by cancer. Initial symptoms include leg weakness and difficulty walking, weakness of the eye muscles, and may progress to affecting the chewing and swallowing muscles and other muscle groups throughout the body. Progression depends on whether it is associated with cancer, however, it is treatable in all forms.
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Limb-Girdle Muscular Dystrophy (0)
Limb-Girdle Muscular Dystrophy is caused by a mutation in any of at least 15 different genes that affect proteins necessary for muscle function. Affects the "limb girdles": the muscles around the shoulders and the hips first. There can also be cardiopulmonary complications. Some types are inherited from one parent, while other types can be inherited by means of two recessive genes from both parents.
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Mitochondrial Myopathy (0)
A group of diseases that affect the mitochondria and interfere with teh functioning of the muscles. Known diseases in this group are comprised of Kearns-Sayre syndrome (KSS) ; Leigh's syndrome ; mitochondrial DNA depletion syndrome (MDS) ; mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS) ; myoclonus epilepsy with ragged red fibers (MERRF) ; mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) ; neuropathy, ataxia and retinitis pigmentosa (NARP) ; Pearson syndrome; and progressive external ophthalmoplegia (PEO). Though there are many degrees of progression and severity, some of these diseases may result in skeletal muscle abnormalities, poor muscle tone, nervous system impairment, eye problems, cardiac abnormalities,and affect other body systems, potentially leading to gastrointestinal issues, seizures, inability to walk, mobility impairment, and may affect the functioning of the brain. Usually inherited through the maternal mitochondrial gene.
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Myasthenia Gravis (0)
Myasthenia Gravis is an autoimmune disease in which the thymus plays a role. Symptoms are fatigue and weakness of voluntary muscles; partial paralysis of eye movements, double vision, droopy eyelids; weakness and fatigue in neck and jaws with problems in chewing, swallowing and holding up the head; weakness can become more generalized, and does progress, but rarely progresses to the point where a wheelchair is needed: with proper treatment people can remain physically active. Usually strikes those over 40.
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Myoadenylate Deaminase Deficiency (0)
Myoadenylate Deaminase Deficiency is an enzyme deficiency which interferes with the muscle cell's processing of ATP, the major energy molecule of the cell. This condition appears in adulthood and is Usually not progressive or debilitating, and may even be asymptomatic. Those who do have symptoms may experience exercise intolerance, cramps, and muscle soreness or pain and may not attain prior performance levels in competitive exercise.
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Myotonia Congenita (0)
This is a group of two diseases, Thomsen's Disease and Becker's disease, which are genetic and manifest themselves in infancy or childhood. These diseases affect the skeletal muscles, showing up as delayed muscle relaxation and muscle stiffness. These diseases are not progressive.
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Myotonic Dystrophy (0)
Myotonic Dystrophy, also known as dystrophia myotonica and Steinert's Disease, has two forms: one is congenital and starts in childhood, the other has teen-to-adult onset. Affects the face first, then the lower legs, forearms, hands and neck. There is often delayed relaxation of muscles, and there may be other symptoms in other bodily systems.
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Myotubular Myopathy (0)
This disease which strikes in infancy has a multitude of symptoms: facial weakness with or without eye muscle weakness and/or drooping eyelids,loss of muscle tone and possible respiratory weakness in some forms of the disease, as well as blackout spells. Reflexes may be absent. Some forms of the disease are X linked recessive, some are inherited by means of one faulty gene from each of the parents.
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Nemaline Myopathy (0)
Affects infants and children, symptoms include weakness of muscles needed for feeding and respiration,which may lead to death, as well as general muscle weakness which may result in restricted mobility and/or spinal curvature. Those affected in infancy may be late to achieve motor milestones.
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Oculopharyngeal Muscular Dystrophy (0)
Onsets in early adulthood to middle age and first affects muscles of eyelid and throat. Facial and limb muscles may be affected later. Disease progression is slow, with difficulty in swallowing and with keeping the eyes open the most well-known symptoms. Can be inherited from one or both parents.
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Paramyotonia Congenita (0)
Paramyotonia Congenita can start in infancy or early childhood with an inability to relax muscles at will);in later childhood/teen years, it takes the form of episodes of muscle weakness, mostly in the face, neck, and upper extremities. Prolonged contractions sensitive to exercise and cold. Inherited by means of a defective gene from one parent.
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Periodic Paralysis (0)
Episodic attacks of muscle weakness characterize both forms (hyperkalemic and hypokalemic)of this condition, with muscle stiffness occurring as an additional symptom in the hyperkalemic form. It can onset in infancy or adulthood.
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Phosphofructokinase Deficiency (0)
Phosphofructokinase Deficiency, also known as Tarui's Disease, strikes people in their teen years to their thirties. The major symptom is muscle fatigue that exercise turns into severe cramps. Someone with this may also experience nausea, vomiting, muscle damage and rust-colored urine (myoglobinuria). Though disease progression is variable, food high in carbohydrates makes symptoms worse. This disease is autosomal recessive, inherited by means of a defective gene from each parent.
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Phosphoglycerate Kinase Deficiency (0)
This is a defect in the phosphoglycerate kinase enzyme, which leads to difficulty breaking down sugar for energy. Not only affects the muscles, but can caused anemia, enlarged spleen,
mental retardation, epilepsy, seizures, and in rare cases, exercise intolerance, muscle pain and weakness, rust colored urine from muscle breakdown (myoglobinuria). Can be X linked recessive or autosomal recessive. Usually affects males, females are usually carriers.
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Phosphoglycerate Mutase Deficiency (0)
While permanent weakness is rare with this genetic enzyme deficiency with onset in childhood and early adulthood, exercise intoelerance, cramps, muscle pain,and sometimes rust colored urine, which indicates muscle breakdown, makes avoiding intense exercise advisable to avoid permanent muscle tissue damage. This disease is autosomal recessive, caused by the contribution of a defective gene from each parent.
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Phosphorylase Deficiency (0)
Phosphorylase Deficiency, also known as Myophosphorylase Deficiency and McArdle’s Disease, is a metabolic disease of the muscles which can strike in childhood or the teen years, usually before age 15. This disease is usually not progressive, but it is characterized by muscle cramps, weakness, and pain shortly after beginning exercise, and heavy exercise can do permanent damage to muscle and kidneys. This disease is autosomal recessive, meaning caused by the contribution of a defective gene from each parent.
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Polymyositis (2)
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Spinal Bulbar Muscular Atrophy (0)
Spinal Bulbar Muscular Atrophy, also known as Kennedy's Disease, leads to weakness and wasting in the muscles of the mouth and throat, and skeletal muscles, as well as to abnormal processing of male hormones by the body. This is a sex-linked disease: women are carriers, but may also be affected with a mild form of the disease.
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Spinal Muscular Atrophy (22)
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Spinal Muscular Atrophy Type 2 (0)
Onset at 6 to 18 months with general muscle weakness, most severe in muscles closest to the center of the body, such as those of the shoulders, hips, thighs and upper back, as well as respiratory muscles in some cases. Spinal curvature often develops.Usually progresses slowly, and survival into adulthood is common if respiratory status is closely monitored. Autosomal recessive: a faulty gene must be inherited from each parent.
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Spinal Muscular Atrophy Type 3 (0)
Also known as SMA3 or Kugelberg-Welander Disease, onset is after 18 months, but many symptoms are the same as Spinal Muscular Atrophy Type 2, with severe weakness in muscles closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Respiratory muscle weakness and spinal curvature can develop. Disease progresses slowly, with walking ability usually maintained until at least adolescence. Wheelchair often required later in life. Inherited by means of a faulty recessive gene from both parents.
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stiffman syndrome (0)
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