The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This r...

With interest, we read the article by Sahebkar et al. about the proposal to treat patients with statin-induced myopathy (SIM) with curcumin in addition to the statin. We have the following comments and concerns. We do not agree with the statement in the introduction that pharmacotherapy for statin-myopathy is limited. The most effective treatment is discontinuation of the statin and adherence t...

GNE myopathy (previous names: HIBM, DMRV, IBM2) is a unique distal myopathy with quadriceps sparing. This recessively inherited myopathy has been diagnosed in various regions of the world with more than 150 disease-causing mutations already identified. Several of those are proven or suspected to be founder mutations in certain regional clusters and are described in this review. The review also ...

Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations. In this study, we report a novel GNE homozygous point mutation c.1834T>G that results in amino acid substitution of cysteine 6...

Centronuclear myopathy (CNM) is a rare congenital myopathy that is characterized by centrally placed nuclei in the muscle fibers. Three forms of the disease are clinically recognized. The severe neonatal form, the childhood onset form, and an adult-onset form. We report a 50 year old male patient with centronuclear myopathy (CNM) in whom the disease manifested itself in the fifth decade of life...

Hypothyroidism's neurological manifestations are uncommon as first symptoms, and they usually appear later in the disease's course.Muscle hypertrophy is a very occurrence hypothyroid people 1. Hoffmann's syndrome kind of hypothyroidism thatmanifests muscle stiffness pseudohypertrophy adults. In most cases myopathy, laboratory tests reveal elevatedlevels enzyme. The electro physiological investi...