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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).
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
MMT is used to evaluate muscular strength, whereas goniometry or ROM tests measure movement around a joint. These tests indicate need for intervention such as passive and active ROM, strengthening and splinting. Passive ROM combined with the use of night splints can significantly improve tendo-Achilles contractures. [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 ...
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.
Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be ...
Genetic testing Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for the dystrophin protein found in muscle. [ 1 ] [ 2 ] [ 3 ] The severe end of the spectrum includes Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD -associated dilated cardiomyopathy .
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
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