She was diagnosed with Nemaline
Myopathy, a congenital, hereditary neuromuscular disorder with many symptoms such as hypoventilation, swallowing dysfunction and impaired speech ability.
Group 2 included more severe infantile neuromuscular disorders, such as spinal muscular atrophy, myotonic dystrophy, centronuclear and nemaline
myopathy, mitochondrial and glycogen storage myopathies, or arthrogryposis.
Sporadic late-onset nemaline
myopathy (SLONM) is a rare, intractable, acquired myopathy that is characterized by progressive muscle weakness and presence of nemaline
rods in myofibers.
Clinical and pathological features of patients with nemaline
The old classification of congenital myopathies was mainly based on histological features observed in the muscle biopsy [1, 3]: myopathies with "rods" (nemaline
myopathies), myopathies with centralized nuclei (myotubular and centronuclear myopathies), myopathies with fiber type disproportion, and myopathies with "cores" (oval areas in the muscle cells) [4, 5].
By EM, this material was distributed in multiple, cigar-shaped, stereotyped formations oriented consistently with the longitudinal axis of the fibers and representing nemaline
Based on these prevalence estimates, chronic alcohol-related myopathy is 10 times more common than the most common inherited myopathy (i.e., nemaline
myopathy), which has a prevalence of 200 cases per 100,000 individuals, and 67 to 1,000 times more common than Duchenne's muscular dystrophy with an estimated prevalence of 2 to 30 per 100,000 people (Preedy et al.
He pointed out that Nemaline
Myopathy account for 26%, Congenital Fiber type Disproportions 17% and infantile myotubular Myopathy 13%.
Kho et al., "Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline
myopathy muscle," Proceedings of the National Academy of Sciences of the United States of America, vol.
The biopsy showed chronic myopathic changes with many lobulated fibers and several fibers containing rods, suggesting an adult-onset nemaline
myopathy (Figures 1(a) and 1(b)).
Georgia Gibbons, 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 to help others.
OUR AUCKLAND University of Technology (AUT) research team is embarking on a national study to find out how many people are affected by genetic muscle disorders, including the muscular dystrophies, congenital myopathy, myotonia congenital, paramyotonia congenita, central core disease, Pompe disease, nemaline
, myotubular and GNE myopathies, and periodic paralysis.