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In medicine, myopathy is a disease of the muscle [1] in which the muscle fibers do not function properly. Myopathy means muscle disease (Greek : myo- muscle + patheia -pathy : suffering). This meaning implies that the primary defect is within the muscle, as opposed to the nerves ("neuropathies" or "neurogenic" disorders) or elsewhere (e.g., the ...
Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. [1]
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD), now more commonly referred to as multisystem proteinopathy (MSP), is an autosomal dominant condition caused by mutations in VCP, HNRPA2B1 or HNRNPA1; it is a multisystem degenerative disorder that can affect muscle, bone, and/or the central nervous system.
Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. They are generally genetic defects ( inborn errors of metabolism ) that interfere with the ability to create energy, causing a low ATP reservoir within the muscle cell.
Congenital myopathy with fiber type disproportion, CFTD, CFTDM. Histopathology of congental muscle fibre dysproportion showing predominance of type 1 fibres which appear to be atrophic (yellow arrows) and few type 2 fibres. ATPase staining (pH 4) of a muscle biopsy. Specialty: Neurology Medical genetics: Symptoms
Common types of myopathy due to statins include myalgia, myositis, and rhabdomyolysis. Statins induce myopathy by inhibiting protein synthesis within the muscle. [6] Statin therapy tends to not show any histopathological differences, and thus a biopsy does not reveal too much about the damage. Often, the damage is found within the mitochondria. [1]
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. [2] There are two types of Bethlem myopathy, based on which type of collagen is affected. [3] Bethlem myopathy 1 (BTHLM1) is caused by a mutation in one of the three genes coding for type VI collagen.
Juvenile dermatomyositis (JDM) is an idiopathic inflammatory myopathy (IMM) of presumed autoimmune dysfunction resulting in muscle weakness among other complications. It manifests itself in children; it is the pediatric counterpart of dermatomyositis.