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

The dystrophin by immnofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal. [arquivosdeneuropsiquiatria.org]

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]

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]

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

  Affected individuals are likely of short stature and have difficulty gaining weight. [curecmd.org]

  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]

• Weight Gain

  Hydrotherapy and physiotherapy were recommended and weight gain was discouraged. Prognathism was detected at age 12 and corrected by conservative orthodontic methods, remaining mild. [scielo.br]

  Interventions may be needed for inadequate weight gain and poor feeding. [ncbi.nlm.nih.gov]

• Prognathism

  Prognathism was detected at age 12 and corrected by conservative orthodontic methods, remaining mild. At age 19 and height of 1.90 m the same motor disabilities were observed. [scielo.br]

• Prolapse

  15, 18, 54 Contractures other than Achilles tendon tightness are rare, and many affected individuals have marked ligamentous laxity, occasionally in association with patellar instability. 54 Cardiac abnormalities other than occasional mitral valve prolapse [clinicalgate.com]

  HP:0001385 36 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763 37 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635 38 waddling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002515 39 mitral valve prolapse [malacards.org]

  Mitral valve prolapse is occasionally seen. Other features. Most individuals have short stature and failure to thrive. Some individuals are slender and have a marfanoid habitus but no other features of Marfan syndrome. Course. [ncbi.nlm.nih.gov]

  Cardiac, mainly right ventricular impairment, is usually secondary to marked respiratory involvement [7] and therefore limited to the classic phenotype of MmD; congenital cardiac defects, particularly mitral valve prolapse, have been reported in few patients [ojrd.biomedcentral.com]

• Hand Deformity

  He was able to follow school though hampered by his hand deformity. Only physical therapy was recommended. He was first seen at our service in March 1993. [scielo.br]

• Muscle Hypotonia

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

• Clumsiness

  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]

  Pelvic girdle def icit w as evident by Gow ers sign and a slight ly clumsy gait. M uscle st ret ch ref lexes w ere present. No f acial muscle def icit, opht halmoparesis or ot her neurological abnormal f unct ion w ere det ect ed. [text-br.123dok.com]

• Unable to Walk

  By the age of 12-years, the condition had worsened such that he was unable to walk, had hyporeflexia, more proximal weakness, and wasting of the interossei muscles. [cags.org.ae]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [musculardystrophynews.com]

Full text links Group 7SearchHeart failure treatmentPapersTopicsCollectionsEffects of Sodium-Glucose Cotransporter 2 Inhibitors for the Treatment of Patients With Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter [read.qxmd.com]

While enroute to hospital radio report was given with chief compliant and treatments listed in the appropriate category of the report. [bartleby.com]

Journal of International Medical Research ( IF 1.573 ) Pub Date : 2019-01-08, DOI: 10.1177/0300060518815358 Hua Lu 1, Zuojia Liu 1, Biru Li 1 Rigid spine syndrome is a rare myopathy in children and has a poor prognosis because of its lack of treatment [x-mol.com]

If the central lesion is caused by bleeding or a stroke in the spinal cord, then recovery is less likely and the prognosis is not as good. The prognosis for CCS in younger patients is better than in older patients. [aans.org]

Involvement of the heart governs the prognosis. Similar articles Rigid spine syndrome and rigid spine sign in myopathies. Merlini L, Granata C, Ballestrazzi A, Marini ML. Merlini L, et al. [pubmed.ncbi.nlm.nih.gov]

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]

Outlook / Prognosis What is the prognosis (outlook) for people who have ankylosing spondylitis (AS)? Ankylosing spondylitis symptoms may gradually worsen as you age. The condition is rarely disabling or life-threatening. [my.clevelandclinic.org]

This condition may be caused by many underlying etiologies. The majority of the isolated cases were paraspinal myopathy. The etiology should be clarified in every single case to treat the underlying cause correctly. [brieflands.com]

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]

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]

This case highlights that nursing of patients with rigid spine syndrome and ventilatory disorders should focus on evaluating the effect of non-invasive mechanical ventilation, prevention of complications, and continuous nursing after discharge. [x-mol.com]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Muscular dystrophy Muscle biopsy shows dystrophic changes The term dystrophy means abnormal growth. [rarediseases.oscar.ncsu.edu]

Prevents unnecessary movement and disruption of alignment. Proper placement of pillows also can prevent pressure deformities in the drying cast. 4. Use sufficient personnel when turning. [nurseslabs.com]

In addition to limited lateral and rotary movement, his cervical retroextention of 110 degrees prevented him from looking forward, and severe dysphagia had developed. [journals.lww.com]