This study presents a large series of paediatric patients with this rare condition in Oman.[ncbi.nlm.nih.gov]
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]
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]
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]
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]
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 Shortstature Growth delay[mendelian.co]
. Other clinical features can include facial, bulbar, and respiratory weakness; shortstature; low body weight Multiple joint contractures; scoliosis; long, thin face; and high- arched palate. 41. HISTOPATHOLOGY: 42.[slideshare.net]
Some patients with MHS may show consistent dysmorphic features (King-Denborough syndrome), including ptosis, down-slanting palpebral fissures, neck webbing, scoliosis, pectus deformity, shortstature, and cryptorchism 57, 58 ; additional findings in other[clinicalgate.com]
He had also developed a chroniccough, and pulmonary function tests showed evidence of restrictive airway disease. Muscle biopsy results were compatible with that of multiminocore disease.[cags.org.ae]
Showing of 42 80%-99% of people have these symptoms Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Myopathy Muscle tissue disease 0003198 Neckmuscleweakness Floppy neck 0000467 Respiratory insufficiency Respiratory impairment[rarediseases.info.nih.gov]
The onset was within the first two years of life with musclehypotonia. The gross motor development, al- though with delay, was achieved in most of the patients, who maintain the deambulation for a long period.[cyberleninka.org]
[…] 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]
stiffness, an inability for the patient to bend their neck and imaging evidence of the loss of muscle mass in the erector spinae muscles. 13 Primary RSS appears to have a genetic basis as mutations in the SEPN1 gene have been found to be associated with[ncbi.nlm.nih.gov]
The two children with secondary RSS had mild neck rigidity but demonstrated typical features of the underlying disease with positiveGowers’ signs. Both patients were female.[ncbi.nlm.nih.gov]
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 sign 0003391 Waddling[rarediseases.info.nih.gov]
If you have questions about which treatment is right for you, talk to your healthcare professional.[rarediseases.info.nih.gov]
There is no treatment for the condition. Management strategies include physiotherapy, exercise, and corrective spinal surgery, if needed. Breathing problems might require ventilation support. Feeding tubes might also be required in certain cases.[cags.org.ae]
[…] for Gastric and Gastroesophageal Junction (GEJ) Tumors Completed NCT00515216 Phase 2 5-fluorouracil;Oxaliplatin;Leucovorin 24 A Phase II Trial of Induction Chemotherapy With ND-420, Cisplatin and Fluorouracil Followed by Surgery in the Treatment of Patients[malacards.org]
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]
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]
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]
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]
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]
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]
Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A : Oxidative stress in SEPN1 -related myopathy: from pathophysiology to treatment. Ann Neurol 2009; 65 : 677–686. 32.[nature.com]
[…] 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]
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]
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]