Glossary for Muscle conditions

• All Disease Categories: All major disease categories
• 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.
• 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.
• 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.
• Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
• Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
• Convulsions: Involuntary spasms especially those affecting the full body
• Cytochrome C Oxidase Deficiency: Cytochrome C oxidase deficiency is a rare inherited condition involving insufficient quantities of the cytochromc C oxidase enzyme. This enzyme plays a role in the functioning of the energy producing part of body cells (mitochondria) and its deficiency impairs the energy-producing functions of the cells. The type and severity of symptoms can vary considerably depending on which particular cells in the body are affected and the degree of the enzyme deficiency. In some cases only skeletal muscles are affected whereas in other cases organs such as the heart and brain are involved. In other cases, the whole body may be involved.
• 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.
• Febrile Seizures: Fever-caused seizures in infants or children.
• 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.
• Hypokalaemia: Decreased concentration of potassium in the blood
• Hypothyroidism: Too little thyroid hormone production.
• Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
• Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Limb-girdle Muscular Dystrophy: A condition which is characterized by a slowly progressive muscular dystrophy
• Mental retardation - myopathy - short stature - endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
• 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.
• Muscle atrophy: Decrease in size and bulk of muscle.
• Muscle pain: Pain that is located anatomically in the region of muscles
• Muscle symptoms: Symptoms affecting the muscles of the body
• Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
• Myalgia: Muscle aches and pains
• Myasthenia Gravis: An autoimmune disorder which interferes with nerve impulses to muscles and hence results in weak, easily fatigued muscles.
• Myopathy: General name for any disease of the muscles.
• Myotonic Dystrophy: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2.
• NADH CoQ reductase, deficiency of: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders neurodegenerative disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
• Open Wound: Any wound that affects the skin and is open to the outside environment
• Osteomalacia: A condition where the bones gradually soften and bend due to poor calcification stemming from a lack or impaired metabolism of vitamin D.
• Powell-Venencie-Gordon syndrome: A very rare syndrome characterized mainly by thickened skin on the palms and soles as well as spastic paralysis.
• Progressive Spinobulbar muscular atrophy: Genetic disease affecting nerves and muscles
• Proximal Renal Tubular Acidosis: This is a condition that is characterised by a metabolic acidosis state caused by impairment of a persons renal function
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Richieri-Costa Da Silva syndrome: A very rare syndrome characterized mainly by mental retardation, skeletal anomalies and delayed muscle relaxation.
• Sarcoma: A malignant carcinoma that is located in connective tissue
• 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.
• Soft Tissue Disorders: Disease of the soft tissues (muscle, fat, fibrous tissues, etc.)
• Soft Tissue Sarcoma: A rare type of cancerous tumor that originates in soft tissues of the body which includes muscles, nerves, tendons, blood vessels and fat. They can occur anywhere in the body and are often asymptomatic during the early stages and symptoms in the later stages depend on the location and size of the tumor.
• 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.
• Treft-Sanborn-Carey syndrome: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
• Triose phosphate-isomerase deficiency: A very rare inherited condition involving a deficiency of triose phosphate-isomerase.
• 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.

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