Presentation may be overt in some females, especially if additional genetic abnormalities, such as skewed X-inactivation, are present. Urinary incontinence may be an additional feature in females, indicating smooth muscle involvement. [orpha.net]

Our findings prove the DNA markers St14, cpX67, DX13, and pSt35-691 to be useful in prenatal diagnosis of XLR-CNM and present the possibility to confirm the diagnosis by histologic examination of the first-trimester abortus. [ncbi.nlm.nih.gov]

In X-inactivation, the female (who would otherwise be a carrier, without any symptoms), actually presents with full-blown X-linked MTM. [en.wikipedia.org]

This is usually the most severe form with profound muscle weakness (myopathy) and decreased muscle tone (hypotonia) present at birth. [treat-nmd.eu]

• Moonshine

  AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine [ncbi.nlm.nih.gov]

• Reduced Fetal Movement

  Signs of antenatal onset are frequent and comprise reduced fetal movements and polyhydramnios. Thinning of the ribs is observed on chest radiographs of the newborn. Birth asphyxia may be the presenting feature. [orpha.net]

  Pregnancy is very often complicated by hydramnios and reduced fetal movements. We describe two families with five affected male babies who all died. [lirias.kuleuven.be]

  Antenatally, the mother had polyhydramnios and she also noticed reduced fetal movement during pregnancy. The infant was born floppy with a weak cry and poor respiratory efforts. [jcnonweb.com]

  Reduced fetal movements or polyhydramnios were not noticed during pregnancy. At birth he was severely hypotonic with poor respiration, and required immediate ventilator support. He experienced 10 episodes of extubation failure up to 6 months of age. [synapse.koreamed.org]

• Excitement

  Currently, the complex pathogenetic mechanisms are better understood and include defects in membrane tubulation and excitation-contraction coupling, providing evidence towards a common basis for the X-linked and autosomal forms of centronuclear myopathy [medlink.com]

  Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. [ncbi.nlm.nih.gov]

  PubMed Google Scholar Razzaq A, Robinson IM, McMahon HT, Skepper JN, Su Y, Zelhof AC, Jackson AP, Gay NJ, O'Kane CJ: Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis [ojrd.biomedcentral.com]

Diagnostic workup is often coordinated by a treating neurologist. In the United States, care is often coordinated through clinics affiliated with the Muscular Dystrophy Association. [en.wikipedia.org]

Management and treatment There is currently no curative treatment available. Management is supportive and based on a multidisciplinary approach. Prognosis In the majority of cases, the course is fatal within the first months of life. [orpha.net]

Currently, no effective treatments exist for XLCNM. Here, we found increased DNM2 levels in XLCNM patients and a mouse model of XLCNM (Mtm1(-/y)). [ncbi.nlm.nih.gov]

• Although no curative treatment exists to date for this usually very severe disorder, active treatment is indicated, at least initially, because of the favorable course in some neonatally severe cases. • Prognosis cannot be based solely on the nature [medlink.com]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.com]

We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. [ncbi.nlm.nih.gov]

Prognosis In the majority of cases, the course is fatal within the first months of life. A proportion of affected males may survive into their teens or beyond. [orpha.net]

We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counsel- ring. [documents.tips]

Prognosis is often determined by respiratory, orthopedic, and bulbar involvement. Over the past decade, a number of causative genes have been identified for congenital myopathies. [neurologyindia.com]

Etiology XLMTM is caused by mutations in the myotubularin ( MTM1 ; Xq27.3-q28) gene. Diagnostic methods Diagnosis is based on typical histopathological findings on muscle biopsy in combination with suggestive clinical features. [orpha.net]

Various etiologies underlie congenital hypotonia, many of which have genetic backgrounds. [synapse.koreamed.org]

As such, consideration for the specific etiology is needed. Additionally, many infants/neonates with congenital myopathy can make improvements in the first few years of life. [emedicine.medscape.com]

Summary Epidemiology The incidence of XLMTM is estimated at 1/50,000 male births. Clinical description The disease is characterized by a severe phenotype in males presenting at birth with marked weakness, hypotonia and respiratory failure. [orpha.net]

Epidemiology Epidemiological data are only available for the congenital myopathies as a group but not for specific conditions. [ojrd.biomedcentral.com]

Epidemiology Frequency The true incidence of congenital myopathies is unknown as no large population-based studies have been conducted. However, there are a varied number of stuidies that demonstrate a relative incidence of the diseases. [emedicine.medscape.com]

ISSN: 0301-2115 Publication status: published KU Leuven publication type: IT Appears in Collections: Section Woman - Miscellaneous (-) Translational Cell & Tissue Research Pathophysiology of Pregnancy Section (-) Section Newborn (-) Medicine Teaching [lirias.kuleuven.be]

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. [ncbi.nlm.nih.gov]

[…] subtypes: central core and multiminicore myopathy); centronuclear myopathy (subtypes: myotubular myopathy and autosomal centronuclear myopathy); congenital fiber-type disproportion myopathy; myosin storage myopathy; and nonspecific myopathic changes Pathophysiology [emedicine.medscape.com]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]

Subsequently, it was also shown that a 50% reduction of dynamin 2 by creating a genetic cross leads to mice without mtm1 that do not have the disease – i.e the phenotype has been prevented in a relevant x-linked cnm mouse model (Cowling et al. 2014). [dynacure.fr]

There is no cure for NEM to date, but a number of procedurescould significantly improve the quality of life 1, 15 : Treatment of lower respiratory tract infections Ventilator use for nocturnal hypoxia Special feeding techniques Physical therapy to help prevent [centogene.com]

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice. Nat Commun. 2017; 8 :15661. [ PMC free article : PMC5467247 ] [ PubMed : 28589938 ] Taylor GS, Maehama T, Dixon JE. [ncbi.nlm.nih.gov]