I also wanted to share my story through music to raise awareness about Nemaline
Myopathy, a rare form of muscular dystrophy that very few people seem to have heard of.
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%.
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.
Of the 43 primary muscle-biopsy reports reviewed, 13 (30%) belonged to patients with confirmed genetic diagnoses or with a pathologically defined subset of congenital muscle disease (such as nemaline
Spinal anesthesia for gastroctomy in an infant with nemaline
There are a large number of myopathies where the cause can be ascertained like hereditary myopathies (Duchenne muscular dystrophy, Becker muscular dystrophy, Facioscapulohumeral muscular dystrophy, etc), congenital myopathies like central core myopathy, nemaline
myopathy, and myopathy due to disorders of muscle energy metabolism (like disorders due to glycogen storage causing progressive weakness).
A right quadriceps biopsy was performed, showing the presence of Nemaline
rods (Figures 1 and 2).
Other diseases of connection to Ashkenazi Jews are Familial Hyperinsulinism, Joubert Syndrome Type 2, Lipoamide Dehydrogenase Deficiency (E3), Nemaline
Myopathy, Spinal Muscular Atrophy (SMA), Usher Syndrome Type 3, Usher Syndrom Type I, and Walker Warburg Syndrome.
Fatal hypertrophic cardiomyopathy and nemaline
myopathy associated with ACTA1 K336E mutation.
Muscle diseases - rhabdomyolysis, zidovudine myopathy, polymyositis, dermatomyositis, pyomyositis, nemaline