Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.com]

[…] be present as well. [en.wikipedia.org]

Laminin alpha-2 negative congenital muscular dystrophy (MDC1A) presenting with a mild phenotype. Neurology. 2004;63:1118–21. [link.springer.com]

Many different groups of CMDs are present. Merosin-deficient CMD type 1A (MDC1A) is the most common form of CMD. [pediatricneurosciences.com]

• Feeding Difficulties

  Another frequent problem is feeding difficulties and the accompanied weight loss. In the worst cases patients die in childhood. There is no cure for MDC1A and no therapy that combats the underlying cause. [voorsara.nl]

  The early onset form is most commonly associated with a complete absence of merosin on muscle biopsy with profound neonatal hypotonia, possible respiratory distress and feeding difficulties while the late onset form presents with proximal muscle weakness [clinicaltrials.gov]

  Feeding difficulties due to decreased suck and swallow can result in recurrent aspiration and poor nutrition. [egl-eurofins.com]

  Some infants may experience respiratory and feeding difficulties shortly after birth (neonatal period). Feeding difficulties may result in affected children failing to gain weight and grow at the expected rate (failure to thrive). [rarediseases.org]

• Hyperlaxity

  Results: There were eight boys and one girl child with classical features of severe muscle weakness, prominent proximal contractures, distal hyperlaxity and prominent calcanei. [neurologyindia.com]

  Affected individuals may experience hypotonia, contractures, joint hyperlaxity, and scoliosis. In this form of CMD, intelligence has been unaffected and individuals retain the ability to walk into adulthood. [rarediseases.org]

  Myopathy With Fiber-Type Disproportion, Nemaline Myopathy, Cap Myopathy AD,AR 100 27 of 27 TRIP4 Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Fractures, Congenital Muscular Dystrophy-Respiratory- Skin Abnormalities- Joint Hyperlaxity [igenomix.es]

  Ullrich first described the combination of joint hyperlaxity and proximal contractures in 1930 in the German literature; this was the first case of what is now known as Ullrich congenital muscular dystrophy. [emedicine.medscape.com]

• Torticollis

  […] jaw Small lower jaw [ more ] 0000347 Pes valgus 0008081 Respiratory failure 0002878 Scoliosis Abnormal curving of the spine 0002650 Short neck Decreased length of neck 0000470 Slender finger Narrow fingers Slender fingers thin fingers [ more ] 0001238 Torticollis [rarediseases.info.nih.gov]

  In some cases, congenital dislocation of the hip, muscles spasms of the neck (torticollis), or lower bone density may develop. Affected individuals may also experience breathing (respiratory) difficulties and failure to thrive. [rarediseases.org]

• Hip Dislocation

  dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Knee flexion contracture 0006380 Long toe Increased length of toes Long toes [ more ] 0010511 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Pes valgus 0008081 [rarediseases.info.nih.gov]

• Neonatal Hypotonia

  The early onset form is most commonly associated with a complete absence of merosin on muscle biopsy with profound neonatal hypotonia, possible respiratory distress and feeding difficulties while the late onset form presents with proximal muscle weakness [clinicaltrials.gov]

  hypotonia Low muscle tone, in neonatal onset 0001319 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Ophthalmoplegia Eye muscle paralysis 0000602 Pachygyria Fewer and broader ridges in brain 0001302 [rarediseases.info.nih.gov]

• Babinski Sign

  Deep tendon reflexes and Babinski's sign were negative. He had joint contractures on elbow and knees. Furthermore, he had a hemangioma on the left temple, chest, and wrist. His echocardiogram showed normal findings [Figure 2]. [pediatricneurosciences.com]

• Dysarthria

  SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis). Systemic Primary Carnitine Deficiency. Neutral Lipid Storage Disease with Ichthyosis. Neutral Lipid Storage Disease with Myopathy. Multiple Acyl-CoA Dehydrogenase Deficiency. [terkko.helsinki.fi]

  SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis) .- Systemic Primary Carnitine Deficiency.- Neutral Lipid Storage Disease with Ichthyosis.- Neutral Lipid Storage Disease with Myopathy.- Multiple Acyl-CoA Dehydrogenase Deficiency.- Carnitine-Palmitoyl-Transferase-II [bokus.com]

PMID 20301468. update 2012 ^ a b c "Congenital Muscular Dystrophy Workup: Laboratory Studies, Imaging Studies, Other Tests". emedicine.medscape.com. Retrieved 2016-04-28. ^ a b c "Congenital muscular dystrophy". [en.wikipedia.org]

Lack of dystrophin leads to cellular instability at these links, with progressive leakage of intracellular components; this results in the high levels of creatine phosphokinase (CPK) noted on routine blood workup of patients with Duchenne MD. [emedicine.medscape.com]

• Creatine Phosphokinase Increased

  […] kinase Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine [rarediseases.info.nih.gov]

Additional diseases which may benefit from treatment with TXA127 include congenital muscular dystrophies, Marfan Syndrome, and amyotrophic lateral sclerosis (ALS). [prnewswire.com]

Such a new pharmaceutical treatment will provide improved quality of life and potentially a prolonged life span for the patient. [drugtargetreview.com]

The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies. [books.google.es]

Lastly, latent and active TGF-β are upregulated in the serum of DyW mice, but only active TGF-β levels are attenuated by Losartan treatment. [content.iospress.com]

Seizures or other neurological complications may require specific treatment. [rarediseases.info.nih.gov]

The prognosis is poor, as many affected children do not reach adolescence. It is caused by mutations in the LAMA2 gene and is inherited in an autosomal recessive manner. [rarediseases.info.nih.gov]

The awareness of this entity is important to avoid misdiagnosis as infantile polymyositis, as the treatment and prognosis of these two entities are different. Financial support and sponsorship Nil. [annalsofian.org]

Prognosis Despite modern advances in gene therapy and molecular biology, MD remains incurable. [emedicine.medscape.com]

Prognosis varies across the muscular dystrophies with some patients experiencing mild, though usually progressive symptoms, while others experience severe disability and early mortality [ 1 ]. [karger.com]

Etiology Classification of types of muscular dystrophy The etiology of MD is an abnormality in the genetic code for specific muscle proteins. [8] They all are classified according to the clinical phenotype, the pathology, and the mode of inheritance. [emedicine.medscape.com]

Diagnosis and etiology of congenital muscular dystrophy. Neurology 2008;71:312-21. [ PUBMED ] 8. Hoffman EP, Pegoraro E. Laminin alpha 2 (merosin) gene mutations. In: Karpati G, editor. Structural and Molecular Basis of Skeletal Muscle Diseases. [annalsofian.org]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

Magee A, Nevin NC: The epidemiology of myotonic dystrophy in Northern Ireland. Community Genet 1999;2:179-183. McKeever K, Magee A: Epidemiology and genetics of Duchenne muscular dystrophy in Northern Ireland. Am J Hum Genet 2003;73:373. [karger.com]

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet. 1996; 97 (3): 277-9[ DOI ][ PubMed ] 7. He Z, Luo X, Liang L, Li P, Li D, Zhe M. [ijp.tums.pub]

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016; 43(1):163-77. PMID: 26786644 Lemmers, RJ, et al. [invitae.com]

In distal MD, it is at the 2q12-14 loci. [12] Epidemiology United States statistics The incidence of MD varies, depending on the specific type of MD under consideration. [emedicine.medscape.com]

This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder. [books.google.com]

Research is increasingly showing that these two conditions also share several pathophysiological mechanisms, including mitochondrial dysfunction, increased apoptosis, abnormal modulation of autophagy, decline in satellite cells, increased generation of [books.google.es]

Mechanism [ edit ] In terms of the mechanism of congenital muscular dystrophy, one finds that though there are many types of CMD the glycosylation of α-dystroglycan and alterations in those genes that are involved are an important part of this conditions pathophysiology [en.wikipedia.org]

Pathophysiology The pathophysiology of the congenital muscular dystrophies depends on the specific genetic defect for each of the dystrophies and is discussed with each of the congenital muscular dystrophies below. [emedicine.medscape.com]

Omigapil is an anti-apoptotic drug designed to prevent cell death. [strongly.mda.org]

Physiotherapy can help prevent the ‘contractures’, children may develop or are borne with, and a programme of exercises should be worked out with a physiotherapist very soon after diagnosis, but surgery is often eventually required to release contractures [voorsara.nl]

Muscular Dystrophy Symptoms of Congenital Muscular Dystrophy People with congenital MD may: Have problems with motor function and muscle control that appear at birth or during infancy Develop chronic shortening of muscles or tendons around joints, which prevents [familydiagnosis.com]

The research team studied the outcome of combining the following single mode treatments: increasing regeneration, by overexpressing muscle specific insulin like growth factor-1, IGF-1 and preventing cell death, by inhibiting the expression of Bax, a pro-apoptotic [sciencedaily.com]

Division of Human Development and Disability, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. Muscular dystrophy: diagnostic tools. Centers for Disease Control and Prevention. [emedicine.medscape.com]