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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.
On the other hand, familial myopathies or dystrophies generally present in a chronic fashion with exceptions of metabolic myopathies where symptoms on occasion can be precipitated acutely. Metabolic myopathies, which affect the production of ATP within the muscle cell, typically present with dynamic (exercise-induced) rather than static ...
Hypokalemic periodic paralysis (hypoKPP), also known as familial hypokalemic periodic paralysis (FHPP), [1] is a rare, autosomal dominant channelopathy characterized by muscle weakness or paralysis when there is a fall in potassium levels in the blood (hypokalemia).
Familial hypertrophic cardiomyopathy is inherited as an autosomal dominant trait which is attributed to mutations in one of a number of genes that encode for the sarcomere proteins, and most diagnosed individuals will have an affected parent. Occasionally, both copies of the gene will be defective, a condition that may lead to a more severe ...
Megaduodenum is a congenital or acquired dilation and elongation of the duodenum with hypertrophy of all layers that presents as a feeling of gastric fullness, abdominal pain, belching, heartburn, and nausea with vomiting sometimes of food eaten 24 hours prior.
Familial amyloid cardiomyopathy (FAC), or transthyretin amyloid cardiomyopathy (ATTR-CM) results from the aggregation and deposition of mutant and wild-type ...
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]
Symptoms onset any time from birth to adulthood. [5] The earlier the disease onset, the greater the variety of possible signs and symptoms. [ citation needed ] Thus, various diagnostic classifications based on the age of onset/severity of the disease have been proposed, although DM1 manifestations likely lie on a continuum.