نتایج جستجو برای: facioscapulohumeralmuscular dystrophy
تعداد نتایج: 22674 فیلتر نتایج به سال:
facioscapulohumeral muscular dystrophy (fshd) is a common inherited muscular dystrophy presented clinically with slowly progressive weakness and wasting of facial and limb muscles and rare bulbar muscle involvement. we present herein a 70-year-old man who was a known case of fshd with complaint of 15-day history of progressive difficulty in chewing and dysarthria and was found to have myastheni...
BACKGROUND Posited pathological mechanisms in Facioscapulohumeral Muscular Dystrophy (FSHD) include activation in somatic tissue of normally silenced genes, increased susceptibility to oxidative stress, and induction of apoptosis. OBJECTIVE To determine the histopathological changes in FSHD muscle biopsies and compare to possible pathological mechanisms of disease. METHODS We performed a cr...
Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy-number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4-permissive haplotypes. This main form is indicated as FSHD1. FSHD-like phenotypes may also appear in the absence of D4Z4 copy-number reduction. Variants of the SMCHD1 gene have been reported to associate with D4Z4 hypomethylation in DUX4-compatible...
Aim and Background: Becker’s muscular dystrophy (BMD) is similar to the Duchenne’s muscular dystrophy, but the clinical course is milder.We introduced a patient with Becker Muscle Dystrophy who candidate for emergency cesarean section.Case report:A36-year-old woman, gestational age 31 weeks, with a history of Becker Muscle Dystrophy and fetal distress who candidate for emergency cesarean sectio...
how to cite this article: barzegar m, habibi p, bonyady m, topchizadeh v, shiva sh. exon deletion pattern in duchene muscular dystrophy in north west of iran. iran j child neurol. 2015 winter; 9(1): 42-48. abstract objective duchene and becker muscular dystrophy (dmd/ bmd) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. the frequency and distri...
muscular dystrophies are inherited disorders that cause progressive muscle weakness (myopathy) and atrophy (loss of muscle mass) due to defects in one or more genes required for normal muscle function. some of the genes responsible for these conditions have been identified .there are a number of different types of muscular dystrophy. the primary symptom for most types is muscle weakness, althou...
this study determines the value of linkage analysis using six rflp markers for carrier detection and prenatal diagnosis in familial dmd/bmd cases and their family members for the first time in the iranian population. we studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of dmd or bmd. subsequently, we determined the rate of heterozygosity for six intragenic rflp marker...
Epidermolysis Bullosa Puriginosa is a genetic mechanobullous disease characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions that appear at birth or later. Scarring and prurigo are most prominent on the shins. Herein, we report a case with a history of blisters since childhood foll...
We hereby report a 79-year-old Iranian man presenting with nail dystrophy and subsequent development of purpuric and ecchymotic plaques, hemorrhagic bullae, and infiltrated papules on the head, neck and trunk. Histological examination of the gingiva, bone marrow aspiration, and biopsy confirmed the diagnosis of primary systemic amyloidosis. In this case, nail dystrophy was the presenting sign o...
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