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]

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]

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]

Advances in clinical and genetic characterization of minicore myopathy have revealed an expanded clinical spectrum, with a minority of affected children presenting in early infancy with severe muscle weakness. [medlink.com]

• Recurrent Respiratory Infections

  respiratory infections ; Respiratory insufficiency ; Scoliosis ; Skeletal muscle atrophy ; Type 1 and type 2 muscle fiber minicore regions Associated Genes RYR1 (Withdrawn symbols: CCO, MHS, MHS1, PPP1R137, RYR ) Mouse Orthologs Ryr1 (Withdrawn symbols [mousephenotype.org]

  respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Respiratory failure 0002878 Scoliosis 0002650 Scrotal hypoplasia Smaller [rarediseases.info.nih.gov]

• 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]

• Pharyngitis

  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]

• 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]

• Hydrops Fetalis

  Autosomal recessive inheritance ; Axial muscle weakness ; Decreased fetal movement ; Difficulty running ; Exercise-induced myalgia ; External ophthalmoplegia ; Facial palsy ; Feeding difficulties in infancy ; Generalized muscle weakness ; High palate ; Hydrops [mousephenotype.org]

  fetalis 0001789 Muscular hypotonia Low or weak muscle tone 0001252 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Neonatal onset 0003623 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory insufficiency Respiratory [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]

• Withdrawn

  […] symbols: CCO, MHS, MHS1, PPP1R137, RYR ) Mouse Orthologs Ryr1 (Withdrawn symbols: AI528790, Ryr ) Source OMIM:255320 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes [mousephenotype.org]

• 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]

• Forgetful

  Never forget: Great power brings great responsibility. You can make mistakes, as long as you try to correct them. As you click the edit button you will find yourself in the visual mode. [wikicure.wikia.com]

• Hypercapnia

  Patients had clinical evidence of nocturnal hypoventilation with hypoxaemia and hypercapnia. Forced vital capacity was significantly reduced (20 to 43% of predicted level). [ncbi.nlm.nih.gov]

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]

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]

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]

Some conditions worsen over time and do not respond well to treatment and others are treatable and othe remain stable. [healthcommunities.com]

[…] 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]

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]

[…] subtypes: central core and multiminicore myopathy); centronuclear myopathy (subtypes: myotubular myopathy and autosomal centronuclear myopathy); congenital fiber-type disproportion myopathy; myosin storage myopathy; and nonspecific myopathic changes Pathophysiology [emedicine.medscape.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]