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It is characterized by generalized muscle weakness and low muscle tone. In its severest form, affected babies often die from respiratory failure. [6] To date, 9 gene mutations have been found to cause nemaline myopathy. 6 of the identified genes are associated with the actin filament, which is the basis for muscle contraction.
Postsynaptic symptoms in infants include severe muscle weakness, feeding and respiratory problems, and delays in the ability to sit, crawl, and walk. Synaptic symptoms include early childhood feeding and respiratory problems, reduced mobility, curvature of the spine, and weakness, which causes a delay in motor milestones.
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.
BACM symptoms that follow are most frequently calf pain, gait complaints, and inability to walk. [2] The condition is self-limited and full restitution can be expected. In very rare cases, however, rhabdomyolysis may develop. [1] Affected are preschool and school-age children with a male predominance. [2]
The weakness is indicated as hypotonia, or lack of muscle tone, which can make an infant seem unstable. [1] [5] Eventually, most patients develop joint contractures or fixed joint deformities. [6] Children may be slow with their motor skills; such as rolling over, sitting up or walking, or may not even reach these milestones of life. Some of ...
Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders. [3] It has a relatively good outcome and follows a stable course. [4] While the exact genetics is unclear, there is an association with mutations in the genes TPM3, ACTA1 and SELENON. [5]
Severity of symptoms can vary greatly between individuals and throughout the lives of the individuals themselves. This may be partly because there are over 130 currently known different mutations that can cause the disorder, each with their own specifics, and also because myotonia congenita is an ion channel disorder, and ion channels are ...
Symptoms of neuromuscular disease may include numbness, paresthesia, muscle atrophy, a pseudoathletic appearance, exercise intolerance, myalgia (muscle pain), fasciculations (muscle twitches), myotonia (delayed muscle relaxation), hypotonia (lack of resistance to passive movement), fixed muscle weakness (a static symptom), or premature muscle ...