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]

• Feeding Difficulties

  OPHTHALMOPLEGIA Classification genetic, neurological Phenotypes Areflexia ; Autosomal recessive inheritance ; Axial muscle weakness ; Decreased fetal movement ; Difficulty running ; Exercise-induced myalgia ; External ophthalmoplegia ; Facial palsy ; Feeding [mousephenotype.org]

  ID 30%-79% of people have these symptoms Axial muscle weakness 0003327 Decreased fetal movement Less than 10 fetal movements in 12 hours 0001558 External ophthalmoplegia Paralysis or weakness of muscles within or surrounding outer part of eye 0000544 Feeding [rarediseases.info.nih.gov]

  Other problems can include feeding difficulties as an infant, facial weakness, long narrow face, high arched palate, kyphoscoliosis, and respiratory failure. [emedicine.medscape.com]

  At birth, severe weakness and hypotonia, feeding difficulty, and respiratory distress are present. Bilateral ptosis, facial weakness, and ophthalmoplegia are common. [slideshare.net]

• Difficulty Running

  running in childhood * Wasting of neck muscles * Wasting of shoulder girdle muscles * Scoliosis * Facial muscle weakness Causes - Myopathy congenital multicore with external ophthalmoplegia Not supplied. [checkorphan.org]

  running ; Exercise-induced myalgia ; External ophthalmoplegia ; Facial palsy ; Feeding difficulties in infancy ; Generalized muscle weakness ; High palate ; Hydrops fetalis ; Increased connective tissue ; Increased variability in muscle fiber diameter [mousephenotype.org]

  running 0009046 Edema Fluid retention Water retention [ more ] 0000969 Facial diplegia 0001349 Flexion contracture Flexed joint that cannot be straightened 0001371 Frog-leg posture 0031139 High palate Elevated palate Increased palatal height [ more ] [rarediseases.info.nih.gov]

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; Scoliosis ; Skeletal muscle atrophy ; Type 1 and type 2 muscle fiber minicore regions Associated Genes RYR1 (Withdrawn symbols: CCO, MHS, MHS1, PPP1R137, RYR ) Mouse Orthologs Ryr1 (Withdrawn symbols [mousephenotype.org]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

  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 muscle fibers 0031237 Motor [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]

• High Arched Palate

  Severity of symptoms are variable Symptoms - Myopathy congenital multicore with external ophthalmoplegia * Neonatal hypotonia * Delayed motor development * Muscle weakness * Amyotrophy * Paralysis of external eye muscles * High arched palate * Poor infant [checkorphan.org]

  arched palate. 41. [slideshare.net]

  Other problems can include feeding difficulties as an infant, facial weakness, long narrow face, high arched palate, kyphoscoliosis, and respiratory failure. [emedicine.medscape.com]

  When examined at 5 years and 10 months he was smart and collaborative, with moderate diffuse hypotonia, flat feet and high arched palate. Muscles were slender. Cervical flexion and scapulo-humeral muscle forces were graded 4 . [scielo.br]

• Proximal Muscle Weakness

  muscle weakness ; Ptosis ; Pulmonary hypoplasia ; Recurrent respiratory infections ; Respiratory insufficiency ; Scoliosis ; Skeletal muscle atrophy ; Type 1 and type 2 muscle fiber minicore regions Associated Genes RYR1 (Withdrawn symbols: CCO, MHS, [mousephenotype.org]

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

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

  muscle weakness Proximal amyotrophy Ankle contracture Multiple joint contractures Cachexia Overlapping fingers EMG abnormality Elbow flexion contracture Abnormality of the cardiovascular system Scarring Paralysis Muscular dystrophy Slow progression Joint [mendelian.co]

  muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Type 1 muscle fiber atrophy 0011807 Type 1 muscle fiber predominance 0003803 5%-29% of people have these symptoms Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 [rarediseases.info.nih.gov]

• Exercise-induced Muscle Pain

  muscle pain Muscle pain on exercise Muscle pain with exercise Muscle pain, exercise-induced [ more ] 0003738 Facial palsy Bell's palsy 0010628 Feeding difficulties in infancy 0008872 Generalized muscle weakness 0003324 Hydrops fetalis 0001789 Muscular [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]

• Myopathic Facies

  facies ; Nemaline bodies ; Neonatal hypotonia ; Neonatal onset ; Phenotypic variability ; Polyhydramnios ; Proximal muscle weakness ; Ptosis ; Pulmonary hypoplasia ; Recurrent respiratory infections ; Respiratory insufficiency ; Scoliosis ; Skeletal [mousephenotype.org]

  facies 0002058 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Type 1 muscle fiber atrophy 0011807 Type 1 muscle fiber predominance 0003803 5%-29% of people have these symptoms Cryptorchidism Undescended testes Undescended [rarediseases.info.nih.gov]

  facies (open mouth with tented upper lip, poor lip seal when sucking, lack of facial expression, ptosis and restricted ocular movements) • Muscle fasciculation 18. [slideshare.net]

• 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]

• Neonatal Hypotonia

  Severity of symptoms are variable Symptoms - Myopathy congenital multicore with external ophthalmoplegia * Neonatal hypotonia * Delayed motor development * Muscle weakness * Amyotrophy * Paralysis of external eye muscles * High arched palate * Poor infant [checkorphan.org]

  Generalized muscle weakness ; High palate ; Hydrops fetalis ; Increased connective tissue ; Increased variability in muscle fiber diameter ; Joint laxity ; Motor delay ; Muscular dystrophy ; Muscular hypotonia ; Myopathic facies ; Nemaline bodies ; Neonatal [mousephenotype.org]

  hypotonia Low muscle tone, in neonatal onset 0001319 Neonatal onset 0003623 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory insufficiency Respiratory impairment 0002093 Skeletal muscle atrophy Muscle degeneration Muscle [rarediseases.info.nih.gov]

  hypotonia Uncommon - Between 30% and 50% cases Accelerate your rare disease diagnosis with us Learn more Other less frequent symptoms Patients with Myopathy and Decreased fetal movement. may also develop some of the following symptoms: Uncommon Symptoms [mendelian.co]

  Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates. Eur J Pediatr. 2008 May. 167 (5):517-23. [Medline]. Birdi K, Prasad AN, Prasad C, Chodirker B, Chudley AE. [emedicine.medscape.com]

• Hyperreflexia

  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]

• 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]

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]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

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]

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]

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

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]

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]

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]

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]