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Creatine kinase (CK), also known as creatine phosphokinase (CPK) or phosphocreatine kinase, is an enzyme (EC 2.7.3.2) expressed by various tissues and cell types. CK catalyses the conversion of creatine and uses adenosine triphosphate (ATP) to create phosphocreatine (PCr) and adenosine diphosphate (ADP).
The CPK-MB test (creatine phosphokinase-MB), also known as CK-MB test, is a cardiac marker [3] used to assist diagnoses of an acute myocardial infarction, myocardial ischemia, or myocarditis. It measures the blood level of CK-MB (creatine kinase myocardial band), the bound combination of two variants (isoenzymes CKM and CKB ) of the enzyme ...
Additional laboratory tests may be performed before genetic testing, such as creatine kinase (CK) blood test, MRI of the muscles, and electromyography (EMG). Phenotypes of overlap between Ullrich congenital muscular dystrophy (UCMD) and Bethlem can be assumed.
Becker muscular dystrophy; Other names: Benign pseudohypertrophic muscular dystrophy [1] X-linked recessive is the manner in which this condition is inherited: Specialty: Neurology Symptoms: Severe upper extremity muscle weakness, [2] Toe-walking [3] Causes: Mutations in DMD gene [4] Diagnostic method: Neurological exam, muscle exam [3] Treatment
Muscular dystrophy (e.g., limb girdle muscular dystrophy) must be considered as well. [citation needed] sIBM can be mistaken for physical deconditioning. [1] Hereditary myopathies can mimic sIBM, both in signs and symptoms and in the appearance of muscle biopsies.
Primary mitochondrial myopathies are inherited, while secondary mitochondrial myopathies may be inherited (e.g. Duchenne's muscular dystrophy) [3] or environmental (e.g. alcoholic myopathy [4] [5]). When it is an inherited primary disease, it is one of the metabolic myopathies. [6] [4]
Duchenne muscular dystrophy is a rare progressive disease that eventually affects all voluntary muscles and involves the heart and breathing muscles in later stages. Life expectancy is estimated to be around 25–26, [18] [59] but this varies. People born with Duchenne muscular dystrophy after 1990 have a median life expectancy of approximately ...
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), [1] is a rare form of autosomal recessive congenital muscular dystrophy. [2]