An overview on the structure and functions of the selenoprotein family, as well as selenoprotein N expression studies on zebra fish, were presented. [enmc.org]

This study presents a large series of paediatric patients with this rare condition in Oman. [ncbi.nlm.nih.gov]

Within families, there can be considerable variation with respect to disease presentation and degree of muscle involvement. The serum creatine kinase (CK) levels are either normal or usually mildly elevated. [mhmedical.com]

This form presents in the neonatal period, and is characterized by marked hypotonia with weakness, delayed motor development, joint hyperextensibility, and poor head control. [cags.org.ae]

Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale [3]. [wikigenes.org]

• Short Stature

  BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic;adult bartter syndrome; bartter syndrome type 3; bartter syndrome type iii Related symptoms: Autosomal recessive inheritance Intellectual disability Short stature Growth delay [mendelian.co]

  stature Decreased body height Small stature [ more ] 0004322 Type 1 and type 2 muscle fiber minicore regions 0003787 Showing of 42 | Last updated: 6/1/2019 The resources below provide information about treatment options for this condition. [rarediseases.info.nih.gov]

  stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 12 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202 13 elbow flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0002987 14 multiple joint contractures 60 33 [malacards.org]

  Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa and hypogonadotrophic hypogonadism. Am J Med Genet. 1985;20:145–158. doi: 10.1002/ajmg.1320200118. [ncbi.nlm.nih.gov]

   Other clinical features can include facial, bulbar, and respiratory weakness; short stature; low body weight  Multiple joint contractures; scoliosis; long, thin face; and high- arched palate. 41. HISTOPATHOLOGY: 42. [slideshare.net]

• Chronic Cough

  He had also developed a chronic cough, and pulmonary function tests showed evidence of restrictive airway disease. Muscle biopsy results were compatible with that of multiminocore disease. [cags.org.ae]

• Muscle Hypotonia

  Patients manifest generalized muscle weakness and hypotonia from early infancy, mental retardation, and seizures. [cyberleninka.org]

• Responsiveness Decreasing

  […] reflex response Decreased reflexes [ more ] 0001265 Pneumonia 0002090 Poor head control 0002421 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 5%-29% of people have these symptoms Global developmental delay 0001263 Gowers [rarediseases.info.nih.gov]

• Neck Flexion Limited

  neck flexion Limited neck flexibility 0005991 Motor delay 0001270 Muscular dystrophy 0003560 Muscular hypotonia Low or weak muscle tone 0001252 Nasal speech Nasal voice 0001611 Nocturnal hypoventilation 0002877 Nonprogressive 0003680 Reduced vital capacity [rarediseases.info.nih.gov]

If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Recent approvals for the use of gatifloxacin in the treatment of CAP due to multidrug-resistant Streptococcus pneumoniae (MDRSP) and in uncomplicated skin and skin structure infections extend the role of this drug in the treatment of bacterial infections [wikigenes.org]

If your child has been diagnosed with multiminicore disease, contact your doctor to discuss the most current treatment options. [diseaseinfosearch.org]

Prognosis In the majority of patients, weakness is static or only slowly progressive, with the degree of respiratory impairment being the most important prognostic factor. [orpha.net]

Late manifestation is normally associated with a better prognosis. Moderate MmD with Hand Involvement (less than 10 % of all affected patients): Characteristic of this subgroup is distal weakness of the upper limbs and hyperlaxity of the joints. [mgz-muenchen.de]

Nocturnal ventilation, when indicated, may significantly improve the prognosis. Assessment of cardiac status because of the risk of cardiac impairment secondary to respiratory involvement Growth should be assessed regularly. [ncbi.nlm.nih.gov]

Prognosis: variable course Diagnosis : Histopathology: • More type 1 fibres than type 2. • Within these fibres, there are structures which are called ‘cores’; which can be seen under the microscope. [slideshare.net]

Etiology The pathogenetic mechanisms of RYR1 -related MmD are currently not well understood, but are likely to involve altered excitability and/or changes in calcium homeostasis. [orpha.net]

Etiology homozygous RYR1 mutations in moderate form of MmD with hand involvement mutations of the selenoprotein N gene (SEPN1)( 12192640 ) in 1p36 (RSMD1) ( 12192640 ) References Jungbluth H. Multi-minicore Disease. [humpath.com]

Thus, RD pose a serious challenge to population health and warrant investigation of their etiology. [journals.plos.org]

Summary Epidemiology Prevalence is unknown. [orpha.net]

Infection control and hospital epidemiology : the official journal of the Society of Hospital Epidemiologists of America. (2005) [ Pubmed ] [wikigenes.org]

The incidence of X-linked myotubular myopathy is estimated at 2/100000 male births but epidemiological data for other forms ... [ygcpguma.gq]

Epidemiology: Worldwide: Incidence:6 per 100,000 live births or 1/10th of all neuromuscular disorders. [slideshare.net]

Myopathy 12 Multicore Myopathy Severe Classic Form 76 Severe Classic Form Minicore Myopathy 12 Minicore Myopathy Severe Classic Form 76 Rigid Spine Muscular Dystrophy-1 54 Rigid Spine Syndrome; Rss 58 Myopathy, Sepn1-Related 58 Characteristics: Orphanet epidemiological [malacards.org]

Clinical features, pathophysiology, and treatment of polymyositis and dermatomyositis; inclusion body myositis; metabolic myopathies; drug-induced myopathies; muscular dystrophies and neurologic diseases; laboratory testing and imaging; electrophysiological [books.google.com]

Functional data presented at the workshop suggested the study of RyR1 function in white blood cells from patients as a suitable approach to investigate the pathophysiological consequences of specific RYR1 changes. [enmc.org]

(PMID: 19067361) Maiti B … Howard MT (Human mutation 2009) 3 4 22 60 Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. [genecards.org]

Understanding the genetic cause (s) of congenital myopathies will increase our knowledge of pathophysiological pathways involved in these diseases and provide insights into future development of specific treatments and therapies. [childrenshospital.org]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

A feeding tube prevents this from happening. There are a number of different types of feeding tube which are available, and these are fitted by a short surgical procedure. [musculardystrophyuk.org]

[…] such as laxatives to prevent constipation, medication for gastroesophageal reflux (GER), and oral caloric supplements as required Trunk bracing in those with severe axial or cervical hypotonia with spinal collapse to prevent severe spinal deformities [ncbi.nlm.nih.gov]

Recognising a particular congenital myopathy as RYR1 - or SEPN1 -related MmD will help to anticipate future course, plan interventions and prevent potential complications. [nature.com]

A disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of multiminicore disease. In some affected families, the genetic cause of the disorder has not been found. [ghr.nlm.nih.gov]

Gastrostomy might be indicated in selected cases to prevent failure to thrive and the risk of aspiration. [clinicalgate.com]