myotubular myopathy


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myopathy

 [mi-op´ah-the]
any disease of a muscle. adj., adj myopath´ic.
centronuclear myopathy myotubular myopathy.
distal myopathy an autosomal dominant form of muscular dystrophy, appearing in two types. The first has onset in infancy, does not progress past adolescence, and is not incapacitating. The second has onset in adulthood and is called late distal hereditary myopathy. Called also distal muscular dystrophy.
glycolytic myopathy any metabolic myopathy resulting from a defect of glycolytic enzyme activity, marked by exercise intolerance and cramping, the accumulation of glycogen in muscle, and recurrent myoglobinuria.
late distal hereditary myopathy distal myopathy that sets in usually after age 40, does not affect life span and first affects the small muscles of the hands and feet and then spreads proximally.
metabolic myopathy myopathy due to disordered metabolism, usually caused by genetic defects or hormonal dysfunction.
mitochondrial myopathy any of a group of myopathies associated with an increased number of enlarged, often abnormal, mitochondria in muscle fibers, manifested by exercise intolerance, generalized weakness, lactic acidosis, infantile tetraparesis, ophthalmoplegia, and cardiac abnormalities.
myotubular myopathy a form marked by myofibers resembling the myotubules of early fetal muscle.
nemaline myopathy a congenital abnormality of myofibrils in which small threadlike fibers are scattered through the muscle fibers; marked by hypotonia and proximal muscle weakness.
ocular myopathy a slowly progressive form affecting the extraocular muscles, with ptosis and progressive immobility of the eyes.

cen·tro·nu·cle·ar my·op·a·thy

slowly progressive generalized muscle weakness and atrophy beginning in childhood; on biopsy of skeletal muscle, the nuclei of most muscle fibers are seen to be located near the center of a small fiber (the normal position for a 10-week embryo) rather than at the periphery of the fiber; familial incidence. Autosomal dominant [MIM*160150] recessive [MIM*255200] and X-linked [310400] forms occur. The X-linked form is caused by mutation in the myotubular myopathy gene (MTM1) on Xq28.
Synonym(s): myotubular myopathy

myotubular myopathy

Centronuclear myopathy A myopathy with various patterns of inheritance; all have centrally-located nuclei in muscle fibers, surrounded by cytoplasmic material with features of maturing myotubules, accompanied by atrophy of type I and hypertrophy of type II muscle fibers; the X-linked form results in neonatal death due to respiratory muscle insufficiency; the AD form is benign. See Myopathy.
References in periodicals archive ?
Under the microscope, muscles affected by central core disease, nemaline myopathy or myotubular myopathy have fairly distinctive appearances.
"And meeting some of the other boys with Myotubular Myopathy has been an immensely positive experience and given me hope.
Summary: Bioinformatic comparison of RNA-Seq data from diseased and gene therapy treated muscle reveals gene expression patterns that correlate with therapeutic correction of X-Linked Myotubular Myopathy in dogs.
Unfortunately our life was turned upside down when he was diagnosed with Myotubular Myopathy two weeks ago."
Myotubular Myopathy is a muscleweakening condition which only affects one in 50,000 children, with 80% of infants diagnosed dying before their first birthday, Michael added: "We as a family are trying to raise some money to help us at this stressful and hard time.
First described in 1966, myotubular myopathy is a slowly progressive, but rarely fatal, disease of voluntary muscle.
The name myotubular myopathy comes from the appearance of affected muscle fibers that resemble myotubes, a type of fiber normally found only during fetal development.
The 12-year-old has myotubular myopathy, a condition which means he can make only small movements and needs a life support machine.
Audentes Therapeutics announced continuing positive data from the first dose cohort of ASPIRO, a Phase 1/2 clinical trial of AT132 in patients with X-Linked Myotubular Myopathy. ASPIRO is a multicenter, multinational, open-label, ascending dose study to evaluate the safety and preliminary efficacy of AT132 in approximately 12 XLMTM patients less than five years of age.
Liam has suffered from myotubular myopathy since birth, which means he can make only very small movements.
Liam has suffered from myotubular myopathy since he was born and spent the first three years of his life in hospital.