Sporadic late-onset nemaline myopathy
is an under-recognized condition.
caused by mutations in the muscle alpha-skeletal-actin gene.
Morgan-Hughes, "Nemaline myopathy
: an unusual cause of ophthalmoparesis," Journal of Neuro-Ophthalmology, vol.
Under the microscope, muscles affected by central core disease, nemaline myopathy
or myotubular myopathy have fairly distinctive appearances.
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 so far raised PS3,600 for three causes close to her heart - Muscular Dystrophy UK, the Nemaline Myopathy
Support Group and the Clatterbridge Cancer Charity.
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.
The twins were soon diagnosed with an extremely rare muscular disorder, Nemaline Myopathy
, and just seven months later, baby Theo lost his battle for life.
A fifth myopathy, nemaline myopathy
, is caused by mutations that affect filament proteins.
Our son has a neuromuscular disease, called nemaline myopathy
, which is a rare form of muscular dystrophy.
It was only when Alder Hey performed a muscle biopsy when she was five that doctors finally told Michelle that Georgia was suffering from Nemaline Myopathy
, a rare form of muscular dystrophy.
, first described in 1963, is a neuromuscular disorder characterized by generalized muscle weakness and the presence of rodlike structures in the muscle fibers; the disorder occurs at a frequency of 1 in 500 000. The differential diagnosis of hypotonia in the neonatal period includes several disease entities: spinal muscular atrophy (type 1, Werdnig-Hoffman disease); congenital myopathies, including nemaline myopathy
; congenital muscular dystrophy; congenital myotonic dystrophy; metabolic myopathies; neuropathies; and neonatal myasthenia gravis.