Antisense therapy is an approach to fighting diseases using short DNA-like molecules called antisense oligonucleotides. Recently, antisense therapy has emerged as an exciting and promising strategy for the treatment of various neurodegenerative and neuromuscular disorders. Previous and ongoing pre-clinical and clinical trials have provided encouraging early results. Spinal muscular atrophy (SMA...

Spinal muscular atrophy is one of the most devastating neurological diseases of childhood. Affected infants and children suffer from often severe muscle weakness caused by degeneration of lower motor neurons in the spinal cord and brainstem. Identification of the causative genetic mutation in most cases has resulted in development of potential treatment strategies. To test these new drugs, clin...

Muscular dystrophies are a heterogeneous group of disorders linked to defects in 20-30 different genes. Mutations in the genes encoding a pair of nuclear envelope proteins, emerin and lamin A/C, have been shown to cause the X-linked and autosomal forms respectively of Emery-Dreifuss muscular dystrophy. A third form of muscular dystrophy, limb girdle muscular dystrophy 1b, has also been linked t...

A genetic and epidemiological study is especially important in those hereditary diseases for which no effective treatment is known, since then genetic counselling is the only means of prevention. The progressive muscular dystrophies are typical conditions of this sort. Knowledge of the type of hereditary transmission for a given form of muscular dystrophy is the basis for correct genetic progno...

Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with congenital muscle weakness, eye and brain structural abnormalities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation. Most frequently the disease onset is congenital or during childhood. The exception is FKRP mutations, in...

Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons associated with progressive muscle weakness and atrophy, is the most common genetic cause of infant mortality. It is caused by decreased levels of the "survival of motor neuron" (SMN) protein. Its inheritance pattern is autosomal recessive, resulting from mutations involving the SMN1 gene on chromosome 5q13. Howe...

how to cite this article: karimzadeh p, ghazavi a. comparison of deflazacort and prednisone in duchenne muscular dystrophy. iranianjournal of child neurology 2012;6(1):5-12. objective duchenne muscular dystrophy (dmd) is a degenerative disease that usually becomes clinically detectable in childhood as progressive proximal weakness. no cure is yet available for dmd, but the use of steroids impro...

BACKGROUND The muscular dystrophies are a heterogeneous group of genetic muscle diseases with variable distribution of weakness and mode of inheritance. METHODS We previously performed a systematic review of worldwide population-based studies on Duchenne and Becker muscular dystrophies; the current study focused on the epidemiology of other muscular dystrophies using Medline and EMBASE databa...

Membrane lesions play an early role in the pathogenesis of muscular dystrophy. Using a new albumin-targeted contrast agent (MS-325), sarcolemmal integrity of two animal models for muscular dystrophy was studied by MRI. Intravenously injected MS-325 does not enter skeletal muscle of normal mice. However, mdx and Sgca-null mutant mice, animal models for Duchenne and sarcoglycan-deficient limb-gir...

INTRODUCTION Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. CASE PRESENTATION Here, we report a 4 ½ year-old female with classical 45,X Turner syn...