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Inherited Myopathic Diseases
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Congenital fiber type disproportion (CFTD) is a very rare hereditary disease affecting muscle fiber type distribution. The most common variant is type I, associated with ACTA1 gene mutation. The disease is always early-onset and associated with generalized hypotonia or weakness. It may progress to adulthood. The main pathognomonic sign in muscle biopsy is small type I fibers (40%) versus large type II fibers (60%). There is also a type-I fiber predominance. The diagnosis requires myosin heavy chain stain (slow and fast), to detect muscle fiber type distribution.
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
In congenital fiber-type disproportion (CFTD) the main histological anomaly is a disproportionate difference in fiber caliber between the type 1 (slow) and type 2 (fast) fibers, with the type 1 fibers being significantly smaller than the type 2 ones.1 Genetic testing in cases of CFTD reveals gene mutations that are also related to other congenital myopathies. Ophthalmoplegia may be present and is sometimes associated with a severe form.21
Centronuclear myopathy: advances in genetic understanding and potential for future treatments
Published in Expert Opinion on Orphan Drugs, 2018
Heterozygous or homozygous mutations in the RYR1 gene are currently involved with different neuromuscular phenotypes. The AD mutations usually cause central-core congenital myopathy, King–Denborough syndrome, exertional rhabdomyolysis, and malignant hyperthermia susceptibility, while the AR mutations cause a large spectrum of phenotypes including mini-core congenital myopathy, congenital fiber-type disproportion and ARCNM [107].