The aim of the present study was to report on a family with pathologically and genetically diagnosed autosomal dominant inherited centronuclear myopathy (CNM). [spandidos-publications.com]

Micrognathia is one of several dysmorphic features that may be present in these patients. Serum creatine kinase concentrations usually are normal. [anesthesiology.pubs.asahq.org]

His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them. [books.google.com]

Among centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy. However, some centronuclear myopathies may present later in life. [en.wikipedia.org]

Type I fibres were small and numerous; type II fibres, where present, were large. [zdoc.site]

• Pneumonia

  The kids have more difficulty breathing at first and are very susceptible to the flu, pneumonia and other respiratory diseases. [mtmrg.org]

  Subsequently restrictive lung disease and asthma developed with multiple episodes of bronchitis and pneumonia necessitating hospital admission. [anesthesiology.pubs.asahq.org]

  The cause is usually respiratory failure, sometimes in combination with cardiac insufficiency or pneumonia, both of which can occur as a result of poor respiratory function. [socialstyrelsen.se]

  Decreased fetal movements and rarely polyhydramnios may complicate the pregnancy.8 Dilated cardiomyopathy and arthrogryposis occur infrequently.9 '" Death from respiratory insufficiency or recurrent pneumonia is common during the first weeks or months [zdoc.site]

• Failure to Thrive

  […] to thrive NA Y N Hemihypertrophy Other Craniofacial NA Y N Craniosynostosis NA Y N Cleft upper lip NA Y N Cleft palate NA Y N Abnormal facial shape Other Eye Defects NA Y N Visual impairment NA Y N Abnormal cornea morphology NA Y N Coloboma NA Y N Abnormal [playground.phenotips.org]

• Muscle Weakness

  weakness 0003327 Distal muscle weakness Weakness of outermost muscles 0002460 EMG: myopathic abnormalities 0003458 Facial palsy Bell's palsy 0010628 Feeding difficulties in infancy 0008872 Flexion contracture Flexed joint that cannot be straightened [rarediseases.info.nih.gov]

  Major clinical symptoms for NEM include the following 1 : Muscle weakness of face, neck and trunk and upper arms and legs (proximal muscle weakness) Hypotonia Decreased or absent deep tendon reflexes Feeding and swallowing difficulties Breathing difficulties [centogene.com]

  Lower extremity weakness was the first and predominant symptom, which slowly developed and resulted in marked muscle weakness by the age of 30. [spandidos-publications.com]

  AFFECTED (those having 2 copies of the mutation and will likely begin to show weight loss, muscle weakness and exercise intolerance after a few months of age. [vetdnacenter.com]

  Initially, muscle weakness is most apparent in the face and eye muscles as well as the upper arms and thighs. Weakness in the eye muscles causes squinting and drooping of the upper eyelids (ptosis). [socialstyrelsen.se]

• Fracture

  Coarctation of aorta NA Y N Tetralogy of Fallot NA Y N Cardiomyopathy NA Y N Arrhythmia Other Respiratory NA Y N Congenital diaphragmatic hernia NA Y N Abnormal lung morphology Musculoskeletal NA Y N Skeletal dysplasia NA Y N Increased susceptibility to fractures [playground.phenotips.org]

  […] anomalies, type A, 11 615181 610194 Autosomal recessive B3GALT6 1p36.33 Ehlers-Danlos syndrome, spondylodysplastic type, 2 615349 615291 Autosomal recessive B3GALT6 1p36.33 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [mnglabs.com]

• Thigh Weakness

  Initially, muscle weakness is most apparent in the face and eye muscles as well as the upper arms and thighs. Weakness in the eye muscles causes squinting and drooping of the upper eyelids (ptosis). [socialstyrelsen.se]

• Myalgia

  In addition to signs of proximal weakness, exercise-induced myalgia may be a presenting feature. [ojrd.biomedcentral.com]

• Dysarthria

  He presented facial diplegia (figure, B), ptosis, vertical ophthalmoparesis, dysphonia, and dysarthria, without dysphagia. [neurology.org]

  […] language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysarthria [rarediseases.info.nih.gov]

  […] time, especially in distal Although a variety of abnormaliThere may be retrognathia and later jaw locik muscles.4"' ties as neurogenic have been interpreted The patients commonly have a nasal voice c r 50 most patients will have normal reported,49 even dysarthria [zdoc.site]

  Feeding difficulties usually feature in infants with X-linked myotubular myopathy and may occur also in patients with severe recessive and dominant forms of CNM, requiring input from a speech therapist who may also promote normal speech if dysarthria [ojrd.biomedcentral.com]

• Areflexia

  Respiratory impairment 0002093 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these symptoms Abnormal heart valve morphology 0001654 Areflexia [rarediseases.info.nih.gov]

  FKBP14 ✓ Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss KBTBD13 ✓ nemaline myopathy-6 KLHL40 ✓ nemaline myopathy-8 KLHL41 ✓ nemaline myopathy-9 LMOD3 ✓ nemaline myopathy-10 MEGF10 ✓ early-onset myopathy with minicores, areflexia [invitae.com]

  Chromosome 5q14.3 deletion syndrome 613443 600662 Autosomal dominant MEFV 16p13.3 Familial Mediterranean fever, AR 249100 608107 Autosomal recessive MEFV 16p13.3 Familial Mediterranean fever, AD 134610 608107 Autosomal dominant MEGF10 5q23.2 Myopathy, areflexia [mnglabs.com]

• Tremor

  Dihydropyrimidine dehydrogenase deficiency 274270 612779 Autosomal recessive DPYS 8q22.3 Dihydropyrimidinuria 222748 613326 Autosomal recessive DRD3 3q13.31 {Schizophrenia, susceptibility to} 181500 126451 Autosomal dominant DRD3 3q13.31 {Essential tremor [mnglabs.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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Researchers are building on this knowledge to deepen their understanding of centronuclear myopathies and to find effective treatments. See Research. [mda.org]

A habilitation team offers support and treatment within the medical, educational, psychological, social and technical fields. Help includes assessment, treatment, the provision of aids, information on the specific disability, and counselling. [socialstyrelsen.se]

Treatment [ edit ] Currently there is no cure for myotubular or centronuclear myopathies. [en.wikipedia.org]

In recent years, MDA-supported scientists have learned that centronuclear myopathies encompass a larger group of diseases than just X-linked myotubular myopathy, and that these types often have a better prognosis than the X-linked type. [mda.org]

In the absence of severe cardiorespiratory involvement, the prognosis appears favourable. [ojrd.biomedcentral.com]

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]

In the X-linked form of centronuclear myopathy, information on the type of genetic mutation can help in giving a prognosis although there may be significant variations between children with the same type of mutation. [socialstyrelsen.se]

Childhood nemaline myopathy: a review of clinical presentation in relation to prognosis. Dev Med Child Neurol 1987;29:815-20. 7 Laing NG, Majda BT, Akkari PA, et al. [zdoc.site]

Institute of Biomedicine/Physiology University of Helsinki Helsinki Finland Department of Neurology University of Erlangen-Nuremberg Erlangen Germany 关键词： MUSCLES -- Diseases DISEASES -- Causes & theories of causation RESPIRATORY insufficiency DIAGNOSIS EPIDEMIOLOGY [lib.nbu.edu.cn]

Epidemiology [ edit ] The overall incidence of myotubular myopathy is 1 in 50,000 male live births. [4] The incidence of other centronuclear myopathies is extremely rare, with there only being nineteen families identified with CNM throughout the world [en.wikipedia.org]

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

Epidemiological data are available for congenital myopathies as a general group but not for specific diseases or conditions. [neurologyindia.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.com]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

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]

Dystrophin prevents the membrane that lines the muscle fiber (plasmalemma) from tearing when the muscle contracts. In DMD patients, very little dystrophin or dystrophin-like proteins exist. [healthcommunities.com]

Medical management generally involves efforts to prevent pulmonary complications, since lung infections can be fatal in patients lacking the muscle strength necessary to clear secretions via coughing. [en.wikipedia.org]

A physiotherapist can give advice and instructions on different exercises to prevent stiffness recurring. A spinal brace can stabilise the trunk and counteract scoliosis (curvature of the spine). [socialstyrelsen.se]