People with Nemaline
Myopathy suffer muscle weakness throughout the body, but it is typically most severe in the muscles of the face, neck, trunk and other muscles close to the centre of the body (proximal muscles), such as those of the upper arms and legs.
Georgia has chosen to help three causes close to her heart: Muscular Dystrophy UK, the Nemaline
Myopathy Support Group and the Clatterbridge Cancer Charity, because her grandad has been treated for prostate cancer at Clatterbridge Cancer Centre.
When this pattern is seen in the absence of findings that would confer a specific pathologic diagnosis (such as nemaline
rods or centrally nucleated fibers), then the pathologic diagnosis of congenital fiber type disproportion may be warranted.
2) The discussion of HIV-associated Nemaline
Rod Myopathy in the medical literature is scarce, with only 13 published case reports prior to this one.
49,56) In addition, necrosis, microvacuoles, cytoplasmic bodies, and nemaline
rods may be present.
In her searingly honest memoir Fragile, Niki recounts her pregnancy and the birth and first year in the lives of her tiny twins Theo and Felix who were only diagnosed with the condition Nemaline
Myopathy after the tragic death of Theo at just seven months.
Neuromuscular disorders that may be associated with OSA in children include, but are not limited to Duchenne's dystrophy, myotonic dystrophy, nemaline
myopathy, congenital muscular dystrophy, cerebral palsy, spinal muscular atrophy, transverse myelitis, and poliomyelitis (Seddon & Khan, 2003).
Alex was born with Nemaline
Myopathy, which causes the tip of his spine to curve gradually as he grows.
Symptoms: The disease gets its name from the fact that the muscle cells contain abnormal clumps of threadlike material -- probably disorganized filament proteins -- called nemaline
bodies (nema is Greek for "thread").
Georgia Gibbons, 15, from Birkenhead, was diagnosed with nemaline
myopathy - which causes muscle weakness throughout the body - when she was six, but has spent the last seven years fundraising.
Congenital fiber-type disproportion has also been described in numerous other muscle diseases, including several congenital myopathy subtypes (centronuclear myopathy, myotubular myopathy, and nemaline
myopathy), as well as in myotonic dystrophy.