Glossary for Proximal muscle weakness

Medical terms related to Proximal muscle weakness or mentioned in this section include:

• Acute intermittent porphyria: A rare inherited metabolic disorder caused by a disturbed porphyrin metabolism resulting in increased production of porphyrin or its precursors. Symptoms include abdominal pain, photosensitivity and neurological disturbances such as seizures, coma, hallucinations and respiratory paralysis.
• Alcohol abuse: Excessive alcohol as a symptom of other conditions
• Alcoholism: High dependence on excessive amounts of alcohol.
• Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
• Corticosteroids - Teratogenic Agent: There is evidence to indicate that exposure to Corticosteroids during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cushing's syndrome: Symptoms similar to those of Cushing's disease
• Cushing-like symptoms: Symptoms similar to those of Cushing's disease
• Dermatomyositis: A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash.
• Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
• Eaton Lambert myasthenic syndrome:
• Ethanol - Teratogenic Agent: There is evidence to indicate that exposure to Ethanol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• GSD IIB - formerly: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes. The condition is now known as Danon disease.
• GSD2B - formerly: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes. The condition is now known as Danon disease.
• Glycogen Storage Disease IIb - formerly: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes. The condition is now known as Danon disease.
• Glycogen storage disease type 2B: 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. Type IIB usually starts during childhood.
• Glycogen storage disease type 2B - formerly: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes. The condition is now known as Danon disease.
• Hereditary carnitine deficiency syndrome, myopathic: An inherited deficiency of carnitine in muscles resulting primarily in muscle weakness - generally less severe than the systemic form.
• Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia: A very rare, dominantly inherited genetic disorder involving progressive muscle weakness and wasting, joint contractures at birth and ophthalmoplegia. Muscle function problems usually don't start until the 4th or 5th decade of life.
• Hyperparathyroidism: Increased secretion of parathyroid hormone from the parathyroid glands.
• Hyperthyroidism: The excessive activity of the thyroid gland
• Hypothyroidism: The decreased activity of the thyroid gland
• Inclusion Body Myositis: Progressive inflammatory muscle disease causing muscle weakness.
• Inclusion body myopathy 3, autosomal dominant: A very rare, dominantly inherited genetic disorder involving progressive muscle weakness and wasting, joint contractures at birth and ophthalmoplegia. Muscle function problems usually don't start until the 4th or 5th decade of life.
• Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia: An inherited muscle wasting disorder associated with dementia and bone disease.
• Limb-Girdle muscular dystrophy type 2A: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the Calpain-3 gene.
• Limb-girdle muscular dystrophy type 1C: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the Caveolin-3 gene.
• Limb-girdle muscular dystrophy type 1D: An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of chromosome 6. Males are more severely affected than females in this form of the disease.
• Limb-girdle muscular dystrophy type 2I: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the FKRP (fukutin-related protein) gene.
• Lupus: Autoimmune disease with numerous effects on various organs and linings.
• Lysosomal glycogen storage disease with normal acid maltase activity: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes.
• Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
• Muscle atrophy: Decrease in size and bulk of muscle.
• Muscle pain: Aches or pains affecting the muscles
• Muscle symptoms: Symptoms affecting the muscles of the body
• Muscle weakness: Weakness of the muscles or loss of tone
• Muscular dystrophy, limb-girdle type 2M: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by a defect in the fukutin gene on chromosome 9q31.
• Muscular dystrophy, limb-girdle, autosomal recessive, type 2K: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations in the gene for O-mannosyltransferase-1.
• 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.
• Osteomalacia: Softening of bones caused by a vitamin D deficiency.
• Paraneoplastic syndromes:
• Polymyalgia rheumatica: A condition characterized by muscle pain and stiffness, fatigue and fever. It is often associated with giant-cell arteritis which is a related but more serious condition.
• Proximal muscle weakness in children:
• Pseudoglycogenosis II: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes.
• Scleroderma: A rare, progressive connective tissue disorder involving thickening and hardening of the skin and connective tissue. There are a number of forms of scleroderma with some forms being systemic (involving internal organs).
• Sick: Feeling ill or off color
• Spinal AVM: Spinal AVM's refers to a group of abnormal blood vessels (arteries and veins) in the spinal canal. The severity of symptoms depends on the size and growth of the blood vessel malformation. Severe complications such as paralysis can result if the malformed blood vessels rupture and bleed.
• Spinal Cord Tumor: Cancer of the spinal cord or central nervous system.
• Spinal Muscular Atrophy: A rare condition characterized by progressive degeneration of the spinal and brainstem motor neurons. During fetal development excess primary neurons are formed. The body automatically destroys the extra primary neurons so that only some survive and mature into neurons. In spinal muscular dystrophy, the process that destroys the excess primary neurons doesn't switch off and continues destroying the neurons resulting in progressive motor problems. Various types of the condition range from mild to severe enough to cause death within a couple of years of birth.
• Spinal cord injury: spinal cord injury causes myelopathy or damage to white matter or myelinated fiber tracts that carry sensation and motor signals to and from the brain
• Spinal stenosis: Narrowing of the spinal cavity around the spinal cord.
• Vacuolar Cardiomyopathy and Myopathy, X-linked: A rare inherited disorder characterized by severe heart problems, varying degrees of muscle weakness and often mental retardation. Other symptoms such as mental retardation may also occur. The genetic anomaly manifests as a deficiency of a protein called LAMP-2 (Lysosomal-Associated Membrane Protein 2) which affects lysosomes.
• Vitamin D deficiency: Deficiency of vitamin D
• Weakness: Symptoms causing weakness of the body

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