Immunohistochemical reactivity for utrophin has been recorded in 45 biopsies from patients with various neuromuscular diseases. The upregulation of utrophin on the extrajunctional sarcolemma has been found in dystrophinopathies, other muscular dystrophies, congenital myopathies, inflammatory myopathies, neurogenic muscle disorders (diabetic neuropathy, amyotrophic lateral sclerosis and spinal m...

Limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. These disorders may lead to an increase in life-threatening complications related to surgery and anaesthesia. In this case, the anaesthetic management of a child with limb-girdle muscular dystrophy is presented.

In the adductor pollicis muscle of patients with limb-girdle and facioscapulohumeral muscular dystrophies and possible carriers of Duchenne type muscular dystrophy, abnormal active state properties were found at the time when there was no alteration of needle electromyography and evoked muscle action potentials. Adrenaline induced a marked reduction of incomplete tetanus via beta receptors with...

Neuromuscular disorders (NMDs) are a group of genetic disorders that affect the peripheral nervous system and muscle, consequently leading to a significant disability in children as well as in adults. NMDs include more than 200 monogenic disorders with a total incidence exceeding 1 in 3,000 [1]. Some of the more extreme diseases in the spectrum include amyotrophic lateral sclerosis (ALS), conge...

In 1971 a patient with suxamethonium-induced cardiac arrest in an unsuspected case of pseudohypertrophic muscular dystrophy was described (Genever, 1971). Suxamethonium has been implicated in several cases of muscular rigidity, hyperkalaemia and cardiac arrest and in malignant hyperpyrexia, and there is evidence that these reactions occur often when there are pre-existing muscular disorders inc...

Umbilical cord mesenchymal stromal cells (MSC) have been widely investigated for cell-based therapy studies as an alternative source to bone marrow transplantation. Umbilical cord tissue is a rich source of MSCs with potential to derivate at least muscle, cartilage, fat, and bone cells in vitro. The possibility to replace the defective muscle cells using cell therapy is a promising approach for...

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the d...

how to cite this article: bozorgmehr b, kariminejad a, nafissi sh, jebelli b, andoni u, gartioux c, ledeuil c, allamand y, richard p, kariminejad mh. ullrich congenital muscular dystrophy (ucmd):clinical and genetic correlations. iran j child neurol. 2013 summer; 7(3): 15-22.   obj ective: ullrich congenital muscular dystrophy (ucmd) corresponds to the severe end of the clinical spectrum of neu...

A number of muscular dystrophies are associated with the defective glycosylation of alpha-dystroglycan and many are now known to result from mutations in a number of genes encoding putative or known glycosyltransferases. These diseases include severe forms of congenital muscular dystrophy (CMD) such as Fukuyama type congenital muscular dystrophy (FCMD), Muscle-Eye-Brain disease (MEB) and Walker...