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]

Now the present condition is, she is losing the strength of her hands, eye vision and hearing capacity. [milaap.org]

Occasionally arrhythmias or chest pain might be the presenting complaint, especially in a patient with myocarditis. Syncope or cardiac arrest is the more likely acute presentation of patients with hypertrophic cardiomyopathy. [clinicaladvisor.com]

The condition has kept stable up to present [ Fig 2 a-c ]. DISCUSSION MmD usually presents as congenital myopathy 2-7 rarely as adult-onset disease 12. [scielo.br]

A 10-y-old girl is presented who suffered mild muscular weakness and exercise intolerance from the age of 1 y onwards, with progression appearing from the age of about 8 y. Multicore myopathy and restrictive cardiomyopathy were diagnosed. [ncbi.nlm.nih.gov]

• Short Stature

  Human phenotypes related to Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism: 60 33 (show all 36) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 hypertelorism 60 33 hallmark (90%) Very [malacards.org]

  Clinical manifestations included microcephaly, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism. [ncbi.nlm.nih.gov]

  stature (1994) J Child Neurol, 9, pp. 275-277., Abstractpt_BR dc.description.referenceKumano, K., Congenital non-progressive myopathy, associated with scoliosis. [repositorio.unicamp.br]

  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]

   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]

• Fatigue

  The symptom began in childhood when a mild precocious fatigue limited his physical activities. In adolescence, muscle pain was felt shortly after physical efforts such as riding a bicycle. The symptoms progressed slowly. [jnnp.bmj.com]

  She was admitted as an emergency after anabrupt worsening of her fatigue and drowsiness. Onexamination she was cyanosed with signs of rightventricular failure. [docslide.com.br]

  See cardiomyopathy, but cardiac MRI or endomyocardial biopsy to confirm diagnosis Symptoms: Very nonspecific in children: malaise, fever, poor appetite, tachypnea, tachycardia, chest pain, abdominal pain, myalgia, fatigue, cough, oedema, hepatomegaly, [dontforgetthebubbles.com]

  He first com- plained of fatigue and dyspnea at age 50. At that time he had clinical biventricular heart failure and mi- tral regurgitation. His electrocar- diogram revealed left anterior hemi- block and frequent ventricular pre- mature complexes. [myslide.es]

  Metabolic Myopathies The primary goal in treating metabolic myopathies is to avoid situations that tax the muscles and promote muscle pain and fatigue. [consultantsinneurology.com]

• Anemia

  MUSCOLARE RN1490 SINDROME DI ISAACS MIOCLONO BALTICO RF0060 EPILESSIA MIOCLONICA PROGRESSIVA MIOCLONO ESSENZIALE EREDITARIO RF0070 MIOCLONO ESSENZIALE EREDITARIO MIODISPLASIA RNG020 SINDROMI CON ARTROGRIPOSI MULTIPLE CONGENITE MIOPATIA - ACIDOSI LATTICA - ANEMIA [malattierare.regione.veneto.it]

  Differental Diagnosis of a Patient with a Dilated Poorly Functioning Left Ventricle Based on Age 1) Fetal: 1) AV malformation (vein of Galen) 2) Myocarditis 3) Severe outflow obstruction 4) Severe valve insufficiency 5) Tachyarrhythmias 6) Severe anemia [clinicaladvisor.com]

  Myopathy, Autosomal Dominant Centronuclear Myopathy AR 100 20 of 20 C12ORF65 Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia [igenomix.es]

• Poor Feeding

  […] difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Increased connective tissue 0009025 Increased variability in muscle fiber diameter 0003557 Internally nucleated skeletal [rarediseases.info.nih.gov]

• Myopathy

  A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibres (1971) Mayo Clin Proc, 46, pp. 666-681pt_BR dc.description.referenceRicoy, J.R., Cabello, A., Goizueta, G., Myopathy with multiple minicore. [repositorio.unicamp.br]

  Prevention - Myopathy congenital multicore with external ophthalmoplegia Not supplied. [checkorphan.org]

  Protein aggregate myopathies. Neurol India 2005;53:273-9. [neurologyindia.com]

  […] fibre type disproportion myopathy CK, creatine kinase EMG, electromyograph Statistics from Altmetric.com congenital fibre type disproportion congenital myopathy multicore disease myalgia CFTDM, congenital fibre type disproportion myopathy CK, creatine [jnnp.bmj.com]

  Four patients with Multicore Myopathy, a rare morphologically distinct myopathy, are described. [ncbi.nlm.nih.gov]

• Proximal Muscle Weakness

  Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development. [ncbi.nlm.nih.gov]

  Increased variability in muscle fiber diameter ; Joint laxity ; Motor delay ; Muscular dystrophy ; Muscular hypotonia ; Myopathic facies ; Nemaline bodies ; Neonatal hypotonia ; Neonatal onset ; Phenotypic variability ; Polyhydramnios ; Proximal muscle [mousephenotype.org]

  It is marked by hypotonia and proximal muscle weakness. [kmle.co.kr]

  […] atrophy Congenital muscular torticollis Limb-girdle muscle weakness Diaphragmatic paralysis Abnormality of the mitochondrion Follicular hyperkeratosis Progressive proximal muscle weakness Proximal amyotrophy Ankle contracture Multiple joint contractures [mendelian.co]

  […] in muscle fiber diameter 0003557 Internally nucleated skeletal muscle fibers 0031237 Motor delay 0001270 Muscle fiber hypertrophy 0100293 Muscular dystrophy 0003560 Myopathic facies 0002058 Proximal muscle weakness Weakness in muscles of upper arms and [rarediseases.info.nih.gov]

• Reduced Fetal Movement

  Clinical description Presentation of MmD is usually in infancy or childhood with hypotonia or proximal weakness; prenatal onset with reduced fetal movements and polyhydramnios has also been recognized [ 7, 8 ]. [ojrd.biomedcentral.com]

• Areflexia

  With External Ophthalmoplegia Synonyms MINICORE MYOPATHY, MULTICORE MYOPATHY, MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA, MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Classification genetic, neurological Phenotypes Areflexia [mousephenotype.org]

  Recessive mutations of satellite cell gene ( MEGF10 ) are defined in patients with early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARRD). [medlink.com]

  [ more ] 0008850 Shoulder girdle muscle weakness Weak shoulder muscles 0003547 Sternocleidomastoid amyotrophy 0012036 Tented upper lip vermilion 0010804 Tibialis atrophy 0011399 Percent of people who have these symptoms is not available through HPO Areflexia [rarediseases.info.nih.gov]

  […] muscular hypotonia Arthrogryposis multiplex congenita Cardiomyopathy Myofibrillar myopathy Death in infancy Small for gestational age Ventricular septal defect Congenital contracture Skeletal muscle atrophy Muscle weakness Trophic changes related to pain Areflexia [mendelian.co]

  Neurological examination revealed hypotonia, mild generalized muscular weakness most prominent in the proximal limb muscles and areflexia with normal plantar reflexes. Facial musculature was normal. [docslide.com.br]

Treatment Centers Edit Please add treatment centers available. Include contacts. Link any mentions you make to the online source if available. [wikicure.wikia.com]

Treatment Treatment The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

The treatment itself required a huge amount of fees that this mother seeks helping hands for her only daughter. [milaap.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]

Health Testing: - Eye Tests - Vision Tests Prognosis - Myopathy congenital multicore with external ophthalmoplegia Prognosis of Myopathy congenital multicore with external ophthalmoplegia: wheelchair dependency may occur in 2nd decade in some patients Treatment [checkorphan.org]

[…] ophthalmoplegia Prognosis of Myopathy congenital multicore with external ophthalmoplegia: wheelchair dependency may occur in 2nd decade in some patients Treatment - Myopathy congenital multicore with external ophthalmoplegia Not supplied. [checkorphan.org]

The prognosis of multicore myopathy is not usually good when cardiac involvement is present. [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]

PROGNOSIS If the underlying cause of the myopathy can be treated successfully, as in the case of endocrine myopathies, the prognosis is usually good. [consultantsinneurology.com]

In all cases a hereditary etiology to the disorders is obvious presumably by an autosomal recessive trait. Fibres with central nuclei and multiple minicores was a prominent finding in all cases. [ncbi.nlm.nih.gov]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Although the etiology of restrictive disease is often idiopathic, known causes include endomyocardial fibrosis, infiltrative disorders (amyloidosis, hemochromatosis and sarcoidosis), carcinoid syndrome, systemic sclerosis and radiotherapy to the chest [clinicaladvisor.com]

The clinical diagnosis was dilated cardiomyopathy of un- known etiology. [myslide.es]

Summary Epidemiology Prevalence is unknown. [orpha.net]

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

13) Duchenne Muscular Dystrophy/Becker Muscular Dystrophy (DMB/BMD) 14) Emery-Dreifuss Muscular Dystrophy (EDMD) 15) Hemochromatosis 16) Limb-girdle muscular dystrophy 17) Myotonic dystrophy 18) Peripartum cardiomyopathy 19) Alcoholic cardiomyopathy Epidemiology [clinicaladvisor.com]

Epidemiology Epidemiological data are only available for the congenital myopathies as a group but not for individual conditions. [ojrd.biomedcentral.com]

Darin N, Tulinius M: Neuromuscular disorders in childhood: a descriptive epidemiological study from Western Sweden. Neuromuscul Disord. 2000, 10: 1-9. 10.1016/S0960-8966(99)00055-3. CrossRef PubMed 5. [springermedizin.de]

Search through current and concise descriptions of pathophysiology of diseases and their impact on anesthesia! Gain expertise in understanding the impact of pathophysiology of coexisting diseases on anaesthesia! [books.google.com]

It is suggested that in myotubular myopathy membrane dysfunction causing decreased ionic gradients is an important feature of the pathophysiology while in multicore myopathy other mechanisms, as a suggestion related to mitochondrial and myofibrillar function [ncbi.nlm.nih.gov]

Pathophysiology Dilated cardiomyopathy is a disease process of many causes that affect heart muscle function eventually resulting in diminished cardiac output and symptoms of heart failure. Presentation may be acute or chronic. [clinicaladvisor.com]

Determining the genetic defect in these patients will help to clarify the pathophysiological alterations that lead to fibre type disproportion. Myalgia was not a feature in previously described patients with multicore disease. [jnnp.bmj.com]

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 - Myopathy congenital multicore with external ophthalmoplegia Not supplied. [checkorphan.org]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

Preventive treatment for permanent contraction of a muscle ( contractures ) includes physical therapy and bracing. There are currently no drugs available to prevent or treat contractures. [consultantsinneurology.com]

England Journal of Medicine, 1999, 341, 709 – 717: Pitt et all: The Effect of Spironolactone on Morbidity and Mortality in Patients with Severe Heart Failure [5] Circulation. 2003;107: 996 – 1002: Hoffmann et all: Efficacy and Safety of Milrinone in Preventing [dontforgetthebubbles.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]