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Classic Multiminicore Myopathy

RSS


Presentation

  • This study presents a large series of paediatric patients with this rare condition in Oman.[ncbi.nlm.nih.gov]
  • The documents contained in this web site are presented for information purposes only. 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]
  • Neurology. 1998; 51 :101–10. [ PubMed : 9674786 ] Chapter Notes Author History Erynn Gordon, MS, CGC (2003-present) Amy Harper, MD (2011-present) Eric P Hoffman, PhD (2001-present) Elena Pegoraro, MD, PhD (2001-present) Susana Quijano-Roy, MD, PhD (2011[ncbi.nlm.nih.gov]
  • The most common type of nemaline rod myopathy presents in the infantile stage with 42% of patients presenting in the neonatal period. [6] While there has been an association with polyhydramnios, decreased fetal movements, and an abnormal fetal presentation[emedicine.medscape.com]
  • Diagnosis is made through observation of symptoms and positive muscle biopsies presenting with small, disorganized areas of muscle fibers called "minicores".[diseaseinfosearch.org]
Short Stature
  • 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 Short stature Growth delay[mendelian.co]
  • 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]
  • .  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]
  • Chudley AE, Rozdilsky B, Houston CS, Becker LE, Knoll JH: Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa and hypogonadotrophic hypogonadism.[springermedizin.de]
Limited Mobility
  • Selenoprotein N muscular dystrophy: Differential diagnosis for early-onset limited mobility of the spine. J Child Neurol. 2006; 21 :316–20. doi: 10.1177/08830738060210041401. [ PubMed ] [ CrossRef ] [ Google Scholar ] 15. Escolar DM, Leshner RT.[ncbi.nlm.nih.gov]
Movement Disorder
  • Movement disorders emergencies: A review. Arq Neuropsiquiatr. 2012; 70 :453–61. doi: 10.1590/S0004-282X2012000600013. [ PubMed ] [ CrossRef ] [ Google Scholar ] 18. Hill NS. Ventilator management for neuromuscular dieases.[ncbi.nlm.nih.gov]
Long Arm
  • This process is due to mutations in the RYR1 gene, located on the long arm of chromosome 19 (19q13.2) and Sepn1, located on the short arm of chromosome 1 (1p36.13). In some affected families, the genetic cause of the disease has not been identified.[ivami.com]
  • Evidence for link-age of the central core disease locus to the proximal long arm ofhuman chromosome 19. Genomics 1991;10:765769.13. Mulley JC, Kozman HM, Phillips HA, et al. Refined geneticlocalization for central core disease.[docslide.com.br]
Neck Muscle Weakness
  • 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 Neck muscle weakness Floppy neck 0000467 Respiratory insufficiency Respiratory impairment[rarediseases.info.nih.gov]
  • muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000467 8 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218 9 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508 10 hyperlordosis 60 33 frequent (33%) Frequent[malacards.org]
Spine Stiffness
  • 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]
Positive Gower's Sign
  • The two children with secondary RSS had mild neck rigidity but demonstrated typical features of the underlying disease with positive Gowerssigns. Both patients were female.[ncbi.nlm.nih.gov]
Short Arm
  • This process is due to mutations in the RYR1 gene, located on the long arm of chromosome 19 (19q13.2) and Sepn1, located on the short arm of chromosome 1 (1p36.13). In some affected families, the genetic cause of the disease has not been identified.[ivami.com]
Gowers Sign
  • Gowerssign was negative in all 10 of these children. MRI scans of the spine were diagnostic in cases of primary RSS.[ncbi.nlm.nih.gov]
  • sign 0003391 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 Percent of people who have these symptoms is not available through HPO Abnormality of the rib cage 0001547 Autosomal recessive inheritance 0000007 Axial muscle weakness 0003327[rarediseases.info.nih.gov]
  • Pelvic girdle deficit was evident by Gowers sign and a slightly clumsy gait. Muscle stretch reflexes were present. No facial muscle deficit, ophthalmoparesis or other neurological abnormal function were detected.[scielo.br]
  • sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003391 42 right ventricular hypertrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001667 43 right ventricular failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001708 44 muscular hypotonia[malacards.org]
Responsiveness Decreasing
  • 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]

Treatment

  • If you have questions about which treatment is right for you, talk to your healthcare professional.[rarediseases.info.nih.gov]
  • 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]
  • 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]
  • 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]
  • Leon Chaitow ND DO is an internationally known and respected osteopathic and naturopathic practitioner and teacher of soft tissue manipulation methods of treatment.[books.google.com]

Prognosis

  • 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]
  • 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]
  • To date, data for all CMD subtypes are insufficient to make any firm genotype / phenotype correlations or to provide definitive prognosis or anticipatory guidance based on CMD subtype.[ncbi.nlm.nih.gov]
  • Worse prognosis has also been associated with respiratory insufficiency due to weakness of diaphragm and accessory respiratory muscles and/or thoracic deformities 6 .[scielo.br]

Etiology

  • 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]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.[ncbi.nlm.nih.gov]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • […] 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]
  • 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]
  • Gastrostomy might be indicated in selected cases to prevent failure to thrive and the risk of aspiration.[clinicalgate.com]
  • Surgical Care • Orthopedic surgery is often necessary in patients who live several years with their disease to prevent contractures and scoliosis Post scoliosis Surgery: 78.[slideshare.net]

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