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Diseases » Myopathy » Glossary
 

Glossary for Myopathy

  • Aconitase deficiency: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.
  • Aldolase A deficiency: A rare condition where a deficiency of the enzyme called aldolase A causes muscle problems and anemia.
  • Amyloidosis: A rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. Symptoms depend on the organs involved. There are numerous forms of the condition: primary amyloidosis, secondary amyloidosis, hemodialysis-associated amyloidosis and familial amyloidosis.
  • Arnold Stickler Bourne syndrome: A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals.
  • Arthrogryposis due to muscular dystrophy: A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth.
  • Barth Syndrome: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 2 is characterized by its affects on the heart.
  • Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
  • Bethlem myopathy: A rare, slow-progressing, genetic muscle disorder where the muscle gradually weaken and become wasted.
  • Borud Syndrome: A very rare syndrome characterized by numerous features including hearing and vision problems, heart muscle disease, ataxia and peripheral neuropathy.
  • Brown Recluse spider poisoning: The Brown Recluse spider is poisonous and is found mainly in southern and central areas of the US.
  • Cardiomyopathy with myopathy due to COX deficency: A rare condition where an enzyme (cytochrome c oxidase) deficiency results in muscle disease which also affects the heart.
  • Carnitine palmitoyl transferase 2 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
  • Chemical poisoning -- Phencyclidine: Phencyclidine is often used as an illegal recreational drug. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome.
  • Congenital disorder of glycosylation type 2D: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2d is caused by a defect on chromosome 9p13 and involves a defect in the gene for beta-1,4-galactosyltransferase.
  • Dermatomyositis: A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash.
  • Desmin related myopathy: A very rare neuromuscular disorder involving the buildup of a certain protein called desmin in various muscles. The severity and rate of progression of the disorder is variable.
  • Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
  • Emery-Dreifuss muscular dystrophy, X-linked: A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
  • Emery-Dreifuss muscular dystrophy, dominant type: A rare disorder characterized by slowly-progressing weakness and wasting of skeletal and heart muscles. The dominant form of the disease is associated with greater variability of symptoms.
  • Familial periodic paralysis: A familial condition involving recurring episodes of muscle weakness or paralysis. The episode may last for hours or days.
  • Forbes disease: A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles.
  • Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
  • Gigantism: A rare endocrine disorder where excess growth hormone is produced prior to puberty.
  • Glycogen branching deficiency: A rare metabolic disorder where an enzyme deficiency (glycogen branching enzyme) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Glycogen debranching deficiency: A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
  • Hyperthyroidism: Too much thyroid hormone production.
  • Hypokalaemia: Decreased concentration of potassium in the blood
  • Hypothyroidism: Too little thyroid hormone production.
  • Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
  • Lactate dehydrogenase deficiency: An inherited genetic muscle disease where an enzyme deficiency (lactate dehydrogenase) affects the normal processes that convert carbohydrates from food into energy which affects muscles. Lactate dehydrogenase facilitates the conversion of lactate to pyruvate and vice versa.
  • Limb symptoms: Symptoms affecting the limbs
  • Limb-girdle Muscular Dystrophy: A condition which is characterized by a slowly progressive muscular dystrophy
  • Lundberg II syndrome: A rare syndrome involving cataracts, reduced hormone production by ovaries or testes and myopathy which mainly involves the facial and muscles close to the trunk.
  • MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
  • Marinesco-Sjogren-like syndrome (MSLS): A very rare disorder characterized by cataracts (during childhood), mental retardation, muscle weakness and brain degeneration. The disorder is very similar to another syndrome called Marinesco-Sjogren syndrome.
  • Mitochondrial neurogastrointestinal encephalopathy syndrome: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
  • Mitochondrial trifunctional protein deficiency: A rare genetic condition where the body is unable to convert certain fats to energy. More specifically, there is insufficient levels of a particular enzyme needed to metabolize a type of fat called long-chain fatty acids.
  • Molybdenum, cofactor deficiency, inherited: A rare metabolic disorder characterized by excessive levels of xanthine in the urine. It is caused by a deficiency of the enzymes xanthine dehydrogenase (as in xanthinuria type I) and enzyme aldehyde oxidase (as in xanthinuria type II) as well as sulfite oxidase which are needed to metabolize xanthine. The metabolic abnormality causes severe xanthinuria with neurological symptoms. The condition may be an inherited or acquired (due to certain drug therapies) deficiency.
  • Muscle conditions: Any condition that affects the muscles of the body
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Muscular Dystrophy: Any of various muscle wasting diseases
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Myalgia: Muscle aches and pains
  • Myoglobinuria: Myoglobin (muscle protein) in the urine. It is often caused by destruction of muscle tissue for a variety of reasons such as certain drugs, metabolic abnormalities and trauma.
  • Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.
  • Myopathy with Exercise Intolerance, Swedish type: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.
  • Myopathy with Lactic Acidosis, Hereditary: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.
  • Myopathy with lactic acidosis and sideroblastic anemia: A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.
  • Myopathy with lysis of myofibrils: A rare muscle disorder where certain muscle cells (type I muscle fibers) are destroyed.
  • Myopathy, Mitochonrdrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay: A rare condition characterized by muscle disease, congenital cataracts, hearing loss and developmental delay.
  • Myopathy, limb-girdle, with bone fragility: A rare inherited disorder characterized by easy bone fracturing, poor healing of fractures and progressive weakness of the limb-girdle muscles. The fractures tend to occur before the muscle problems. The slow-healing fractures sometimes resulted in osteomyelitis and limb amputation.
  • Myositis ossificans: A very rare progressive disorder involving calcification of muscles, tendons and ligaments.
  • Native American myopathy: A rare genetic disorder characterized by muscle disease from birth, cleft palate and malignant hyperthermia.
  • Neuromyotonia: A condition which is characterized by myotonia caused by electrical activity of the peripheral nerve
  • Osteomalacia: A condition where the bones gradually soften and bend due to poor calcification stemming from a lack or impaired metabolism of vitamin D.
  • Polio: Dangerous virus now rare due to vaccination.
  • Polyneuropathy -- Ophthalmoplegia -- Leukoencehalopathy -- Intestinal Pseudo-Obstruction: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
  • Pork tapeworm: A tapeworm infection that is caused from pork
  • Proximal Renal Tubular Acidosis: This is a condition that is characterised by a metabolic acidosis state caused by impairment of a persons renal function
  • Rhabdomyolysis: Skeletal muscle injury or death, which releases muscle fibres into the blood.
  • Short-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy.
  • Spheroid body myopathy: A slow developing muscle disorder which usually starts during adolescence and causes loss of movement ability.
  • Tel-Hashomer camptodactyly syndrome: A very rare syndrome characterized mainly by finger flexion, facial anomalies, short stature and muscle problems.
  • Tetany: Sensation changes and muscle symptoms from low blood calcium
  • Thyroid eye disease: Thyroid eye disease is an autoimmune eye condition that, while separate from thyroid disease, is often seen in conjunction with Graves' Disease.
  • Triose phosphate-isomerase deficiency: A very rare inherited condition involving a deficiency of triose phosphate-isomerase.
  • Triosephosphate isomerase 1: A rare inherited blood disorder involving a deficiency of red cell triosephosphate isomerase which is involved in the glycolysis (glucose metabolism) process to produce energy. The disorder is characterized by anemia, recurring infection and often progressive neurological degeneration. The severity of the disorder is variable with some patients having central nervous system involvement while others don't.
  • Type III Glycogen Storage Disease: A condition which is characterized by a disease affecting glycogen storage
  • Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage. There are three subtypes of the disorder each with varying severity: severe early-onset form, an intermediate form and an adult-onset form.
  • Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.
  • Weakness: Symptoms causing weakness of the body
  • Woods Black Norbury syndrome: A condition that is characterised by immune deficiency in the newborn ultimately resulting in death
  • Xanthine oxidase deficiency type I: A rare metabolic disorder characterized by excessive levels of xanthine in the urine. Type I xanthinuria is caused by a deficiency of the enzyme xanthine dehydrogenase which is needed to metabolize xanthine. The metabolic abnormality primarily causes kidney stones and kidney failure in severe cases.
  • Xanthine oxidase deficiency type II: A rare metabolic disorder characterized by excessive levels of xanthine in the urine. Type II xanthinuria is caused by a deficiency of the enzymes xanthine dehydrogenase and enzyme aldehyde oxidase which are needed to metabolize xanthine. The metabolic abnormality primarily causes kidney stones and kidney failure in severe cases.

 

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