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Affected babies have general muscle weakness, weak cry and floppy limbs; consequently, the condition is usually apparent at or even before birth. Symptoms resemble the more severe forms of the more common spinal muscular atrophy (SMA); however, SMAX2 is caused by a different genetic defect and only genetic testing can correctly identify the ...
Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. The severity of these symptoms varies and can change throughout one's life to some extent.
The age of onset and the severity of symptoms form the basis of the traditional classification of spinal muscular atrophy into a number of types. [ 4 ] Spinal muscular atrophy is due to an abnormality ( mutation ) in the SMN1 gene [ 1 ] [ 2 ] which encodes SMN , a protein necessary for survival of motor neurons . [ 8 ]
Presynaptic symptoms include brief stops in breathing, weakness of the eye, mouth, and throat muscles. These symptoms often result in double vision and difficulty chewing and swallowing. Postsynaptic symptoms in infants include severe muscle weakness, feeding and respiratory problems, and delays in the ability to sit, crawl, and walk.
Congenital fiber type disproportion affects skeletal muscle, typically causing weakness in the shoulders, upper arms, thighs, and hips. Skeletal muscle is made up of two kinds of fiber, type 1 and type 2. In congenital fiber type disproportion, type 1 fibers are not only smaller but often more abundant than type 2 fibers. [12]
Walker–Warburg syndrome at the beginning a progressive weakness and low muscle tone at birth or during early infancy; small muscles; the majority of affected children do not live more than 3 years of age. Eye structure problems are present, with accompanying visual impairment. [21
Tubular aggregate myopathy (TAM1 & TAM2) includes, among other symptoms, contractures, muscle weakness, and fatty atrophy of muscle. [24] [25] [26] Typical to Bethlem myopathy 1 and 2 are the presence of multiple contractures. [11] [5] A contracture can be caused by a variety of reasons, from disease to lifestyle (see Muscle contractures).
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]