238 research outputs found
Duchenne muscular dystophy: A short review and treatment update
No full textAfter advances in clinical care and newer efforts in therapeutic approaches, life span has lengthened in Duchenne muscular dystrophy (DMD). Starting from eary 1980s, each decade lead to a five year gain. DMD is not simply a monogenic X-linked disorder, it is a multisystemic condition. Pulmonary, cardiac, endocrine, gastrointestinal, and bone health aspects need careful monitoring along with pyschology, physiotherapy, social and family as a whole.Molecular treatments are becoming facts, which some are already at hand. Some others are expected to be available within the next two years
Epidemiology Of Muscular Dystrophies In The Mediterranean Area
No full textThe Mediterranean countries are distinguished with their peculiar genetic pool and diversities. Recessive diseases often present with their own founder mutations. In some instances this is shared with neighboring populations. Dominant disorders in the area are increasingly recognized as health care providing systems and technology improve. Among muscular dystrophies Duchenne and Becker types constitute the major fraction in almost all societies. This is followed by various forms of limb-girdle muscular dystrophy. Congenital dystrophies and other related rare types are a matter of recognition. The identification and registry of facio-scapulo-humeral and myotonic dystrophies vary in different states.PubMe
Ullrich Congenital Muscular Dystrophy
No full textObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy
Spinal muscular atrophy associated with progressive myoclonus epilepsy
No full textA rare syndrome characterized by lower motor neuron disease associated with progressive myoclonic epilepsy, referred to as "spinal muscular atrophy associated with progressive myoclonic epilepsy" (SMAPME), has been described in childhood and is inherited as an autosomal recessive trait. SMA-PME is caused by mutation in the ASAH1 gene encoding acid ceramidase. Ceramide and the metabolites participate in various cellular events as lipid mediators. The catabolism of ceramide in mammals occurs in lysosomes through the activity of ceramidase. Three different ceramidases (acid, neutral and alkaline) have been identified and appear to play distinct roles in sphingolipid metabolism. The enzymatic activity of acid ceramidase is deficient in two rare inherited disorders; Farber disease and SMA-PME. Farber disease is a very rare and severe autosomal recessive condition with a distinct clinical phenotype. The marked difference in disease manifestations may explain why Farber and SMA-PME diseases were not previously suspected to be allelic conditions. The precise molecular mechanism underlying the phenotypic differences remains to be clarified. Recently, a condition with mutation in CERS1, the gene encoding ceramide synthase 1, has been identified as a novel form of PME. This finding underlies the essential role of enzymes regulating either the synthesis (CERS1) or degradation (ASAH1
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing
No full textPURPOSE: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation sequencing created possibilities to combine whole-exome sequencing (WES) and homozygosity mapping in a single step.METHODS: Basic optimization of homozygosity mapping parameters was performed in a group of families with autosomal-recessive (AR) mutations for which both single-nucleotide polymorphism (SNP) array and WES data were available. We varied the criteria for SNP extraction and PLINK thresholds to estimate their effect on the accuracy of homozygosity mapping based on WES.RESULTS: Our protocol showed high specificity and sensitivity for homozygosity detection and facilitated the identification of novel mutations in GAN, GBA2, and ZFYVE26 in four families affected by hereditary spastic paraplegia or Charcot-Marie-Tooth disease. Filtering and mapping with optimized parameters was integrated into the HOMWES (homozygosity mapping based on WES analysis) tool in the GenomeComb package for genomic data analysis.CONCLUSION: We present recommendations for detection of homozygous regions based on WES data and a bioinformatics tool for their identification, which can be widely applied for studying AR disorders
Assessment of Neurologic Disorders and Rare Intracranial Anomalies Associated With Cleft Lip and Palate
No full textAccompanying neurologic disorders directly affect psychosocial development of cleft lip and/or cleft palate (CLP) patients and make it difficult for their family to look after them properly. The aim of this study was to investigate the diversity and the incidence of additional neurologic malformations in children with CLP and to evaluate their effects on cleft care. All patients who applied to our Cleft and Craniofacial Center between July 2014 and July 2017 were included in the study. Demographic and perioperative data such as gender, cleft type, syndromic status of the patient, associated neurologic anomalies, timing and duration of operation, hospitalization period, and follow-up period in the intensive care unit are all recorded. All patients received an interdisciplinary evaluation including pediatric neurology specialists in terms of mental and/or motor developmental delay, epilepsy, and other neurologic disorders. After detailed neurologic examination, 83 (3.8%) out of 2190 were reported as having a neurologic defect. The most leading neurologic disorder was found to be mental-motor retardation in 57 children followed by epileptiform disorders detected in 36 children. In 22 patients, rare intracranial pathologies were detected on magnetic resonance imaging. According to our results, having a neurologic pathology increases the need for intensive care unit stay by 5 times in these patients. There was statistically significant relationship between hospitalization period, age of cleft surgery, and neurologic pathologies in these patients. Neurologic disorders could complicate cleft care, cause delays in the planned surgery schedule, and increase perioperative and postoperative morbidity
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