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]

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]