Glycogen Storage Disease Type 5
Glycogen storage disease type V (GSD V) is an inherited disorder of glycogen metabolism that affects the skeletal muscle.[genedx.com]
Three patients were wheelchair dependent due to skeletal muscle involvement (signs of permanent muscle weakness with atrophy).[link.springer.com]
[…] features Pain: Legs Arms Fatigue Cramps: Proximal muscles Muscle size Atrophy: Proportionate to weakness May be mild calf hypertrophy Tendon reflexes: Reduced in proportion[neuromuscular.wustl.edu]
Autosomal Recessive Centronuclear Myopathy
muscle weakness.[invitae.com]
[…] characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement.[icdlist.com]
Centronuclear Myopathy is a condition in which there is a weakness in the muscles or atrophy of skeletal muscles.[wikiexclusive.com]
Muscular Dystrophy
From Wikidata Jump to navigation Jump to search myopathy characterized by progressive skeletal muscle weakness degeneration edit English muscular dystrophy myopathy characterized[wikidata.org]
[…] by progressive skeletal muscle weakness degeneration MD Muscular dystrophy, MD Statements Identifiers Sitelinks Wikipedia (33 entries) edit Wikibooks (0 entries) edit Wikiquote[wikidata.org]
Acute Gastroenteritis
Hypokalemic periodic paralysis is a condition, characterized by episodic weakness of the skeletal muscle. It may be presented as familial or sporadic (secondary).[ncbi.nlm.nih.gov]
Barth Syndrome
muscle weakness, or family history indicating an X-linked pattern of inheritance.[ncbi.nlm.nih.gov]
This disease is characterized by cardiac abnormalities, skeletal muscle weakness, recurrent infections due to low white blood cell (immune cell) counts, and delayed growth[mitochondrialdiseasenews.com]
Barth syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal[ncbi.nlm.nih.gov]
Vitamin D Deficiency
As the Vitamin D Council explains, without the vitamin, our bodies may lose bone tissue, leading to bone pain, muscle weakness and possible skeletal deformity.[aplaceformom.com]
[…] signs and symptoms of osteomalacia (bone pain and tenderness, proximal muscle weakness reported as difficulty in rising from a sitting position).[bestpractice.bmj.com]
We present a case of a 30-year-old woman presented with muscle weakness, weight loss, hypercalcaemia and a pathological fracture, eventually with rapidly progressive musculoskeletal[ncbi.nlm.nih.gov]
Hypersensitivity
In myasthenia gravis, for example, antibodies are produced that bind to and inactivate the acetylcholine receptors on skeletal muscle.[courses.washington.edu]
Muscles become weak and easy to fatigue.[courses.washington.edu]
Metabolic Syndrome
muscle N/A N/A N/A Congenital myopathy Developmental delay.[ncbi.nlm.nih.gov]
Muscle weakness, Percussion-induced myotonia Other features N/A Terato- zoospermia Short stature, Hypocalcemia, Vitamin D resistance Low bone density for age, distal metaphyseal[ncbi.nlm.nih.gov]
[…] bones Most frequent Occasional Not reported Not reported Gastrointestinal complications N/A N/A Functional mega- esophagus Congenital pyloric stenosis requiring surgery Skeletal[ncbi.nlm.nih.gov]
Polymyositis
DEFINITION Polymyositis is an idiopathic inflamatory myopathy that causes symmetrical proximal muscle weakness, elevated skeletal muscle enzyme levels,characteristic electromyograhic[de.slideshare.net]
The inflammatory myopathies represent the largest group of acquired and potentially treatable causes of skeletal muscle weakness.[accessmedicine.mhmedical.com]
Both manifest with proximal skeletal muscle weakness, though DM has associated cutaneous findings.[pathwaymedicine.org]
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder affecting 1 in 3,500 males, characterized by progressive skeletal muscle weakness and death secondary to[ncbi.nlm.nih.gov]
Several important methods have been considered standard-in-the-field for analyses of skeletal muscle weakness, strength, endurance, and histopathology, as well as responses[ncbi.nlm.nih.gov]
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, characterized by progressive skeletal muscle weakness, loss of ambulation, and death secondary to cardiac[ncbi.nlm.nih.gov]