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]

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]

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]

• 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]

• Developmental Delay

  MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency Related symptoms: Autosomal recessive inheritance Seizures Global developmental delay Generalized hypotonia Failure to thrive SOURCES: NCIT GARD OMIM [mendelian.co]

  […] swayback 0003307 Hyporeflexia Decreased 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 [rarediseases.info.nih.gov]

  The heterogeneous nature of CMD is reflected by differing degrees of motor developmental delay, physical disability, muscle pathology, elevation of serum creatine kinase (CK) and a variable presence of mental retardation and structural brain defects. [dmd.nl]

  Case 2 A five-year-old male child presented with history of developmental delay and generalized hypotonia and child was floppy at birth. There was delay in attainment of motor milestones. [bioline.org.br]

  Presentation of the patient is either as a “floppy infant” with generalized hypotonia at birth followed by developmental delay or with weakness of variable severity and distribution later in childhood. [clinicalgate.com]

• Swelling

  When the spinal cord is squashed, bruising, bleeding and swelling can occur, particularly in the center or central portion of the spinal cord. [aans.org]

  Disease-modifying anti-rheumatic drugs (DMARDs): Medications such as sulfasalazine reduce pain and joint swelling. The drugs also treat lesions caused by inflammatory bowel disease. [my.clevelandclinic.org]

  Note anterior widening of the disk space at C4-C5 with tiny anterior ossified fragments, minimal posterior translation of C4 on C5, and prevertebral soft tissue swelling. [radiologykey.com]

  […] ischemic bowel) Diverticulitis (inflammation and infection of the colon) Endometriosis Heartburn, indigestion, or gastroesophageal reflux (GERD) Inflammatory bowel disease (Crohn disease or ulcerative colitis) Kidney stones Muscle strain Pancreatitis (swelling [mountsinai.org]

  Coaptation splint (Jones-Sugar tong) may be used to immobilize fracture while excessive tissue swelling is present. [nurseslabs.com]

• Mobility Impairment

  Here are eleven (11) nursing care plans (NCP) and nursing diagnosis (NDx) for fracture: Risk for Falls Acute Pain Risk for Peripheral Neurovascular Dysfunction Risk for Impaired Gas Exchange Impaired Physical Mobility Impaired Skin Integrity Risk for [nurseslabs.com]

• Flexion Contracture

  Flexion contracture Contracture, Flexion contractures of joints, Joint contractures [more] A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. [rarediseases.oscar.ncsu.edu]

  contractures of the neck and spine, scoliosis, and joint contractures. [jamanetwork.com]

  Muscle weakness, rigid spine, and flexion contracture of elbows and ankles were noted in the first 6 years of age. Radiological study of the cervical spine revealed considerable reduction not only of flexion, but also of extension, of the neck. [semanticscholar.org]

  contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Hamstring contractures 0003089 Hip contracture 0003273 Hyperlordosis Prominent swayback 0003307 Hyporeflexia Decreased reflex response Decreased reflexes [ more [rarediseases.info.nih.gov]

  Contracture of the Achilles tendons, flexion contracture of the elbows, and loss of motion of the cervical spine were the main findings during the current evaluation. Radiographs of the affected joints were normal. [pubmed.ncbi.nlm.nih.gov]

• Hyperlaxity

  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. The lower extremities are relatively unaffected. [mgz-muenchen.de]

  To identify its genetic basis, we performed a genome-wide screening in a consanguineous Algerian family in which three children presented in infancy with moderate weakness predominant in axial muscles, pelvic girdle and hands, joint hyperlaxity (hand [archive-ouverte.unige.ch]

  Facial weakness, high-arched palate, ptosis, ophthalmoplegia, joint hyperlaxity, and contractures are common. Benign couse 37. MUSCLE PATHOLOGY IN CENTRONUCLEAR MYOTUBULAR 38. [slideshare.net]

  Hypotonia, amyotrophy, and hyperlaxity were present in hands. (B) Axial lower limb com-puted tomography scan from Patient 1. [docslide.com.br]

  The characteristic feature is that people with this form are double-jointed (hyperlaxity). Antenatal form with arthrogryposis multiplex congenita (AMC) This form also affects less than 10% of people with minicore myopathy. [musculardystrophyuk.org]

• Lordosis

  Clinically, a thoracic lordosis was observed in 87% of patients, and X-ray showed a flat thoracic spine. Management of the spinal deformity was focused mainly in axial stretching and antilordotic bracing. [em-consulte.com]

  The type and location of spinal deformity: Thoracic kyphosis: collagen VI-deficient CMD Thoracic lordosis: laminin alpha-2 deficiency, SELENON -related CMD, and L-CMD; late stage of dystroglycanopathies. [ncbi.nlm.nih.gov]

  In 6 patients, presentation with scoliosis was between 4 and 12 years of age (mean age 8.8 years); patient 3 presented lordosis at 6 years of age. Patient 6 showed contractures involving the elbow and Achilles tendon at 12 years old. [frontiersin.org]

  Spinal deformities include exaggerated lordosis, scoliosis, and spinal rigidity. 14 Scoliosis may be present at birth but typically manifests in a progressive manner around the time of the pubertal growth spurt. Ligamentous laxity is common. [clinicalgate.com]

  In a healthy spine, the normal lordosis and kyphosis of the spine allow for the balanced weight distribution of the head and upper body. [pubs.rsna.org]

• Neck Weakness

  Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. [genecards.org]

  Disease description A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure. [uniprot.org]

  Patients with SEPN-RM present with similar clinical findings, mainly early-onset hypotonia and muscular atrophy, particularly in axial musculature, along with ensuing scoliosis, neck weakness, and spinal rigidity. [bmcmedgenet.biomedcentral.com]

  Neck: limited neck flexion Head And Neck Mouth: high-arched palate Head And Neck Face: facial weakness Chest External Features: flat thorax Skeletal Spine: scoliosis spinal rigidity limited flexion Muscle Soft Tissue: axial muscle weakness poor head [malacards.org]

• Muscle Hypotonia

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

• Lymphocytic Infiltrate

  Three subjects with primary rigid spine syndrome had nonspecific myopathy; in two subjects there were mild variation in fiber size, fatty infiltration, no necrosis or regeneration changes, no lymphocytic infiltrations and normal immune histochemistry; [brieflands.com]

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]

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]

Non-Surgical Treatments Observed neurological improvement is the most compelling reason not to proceed with surgical treatment in favor of non-surgical management of CCS. [aans.org]

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]

[…] minus' sign Virchow -triad Use Parentheses water AND (cup OR glass) Add an asterisk (*) at end of a word to include word stems Neuro* will search for Neurology, Neuroscientist, Neurological, and so on Use quotes to search for an exact phrase "primary prevention [read.qxmd.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]

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]

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]