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]

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]

This form of the condition also causes general muscle weakness and feeding difficulties that appear in the first year of life. [ghr.nlm.nih.gov]

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]

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; Scoliosis ; Skeletal muscle atrophy ; Type 1 and type 2 muscle fiber minicore regions Associated Genes RYR1 (Withdrawn symbols: CCO, MHS, MHS1, PPP1R137, RYR ) Mouse Orthologs Ryr1 (Withdrawn symbols [mousephenotype.org]

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]

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]

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]

[…] slowly Progressive •Respiratory muscles •Non progressive minimal facial muscle involvement •Minimal proximal muscle weakness •Benign course 23. [slideshare.net]

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]

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]

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 (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]

[…] 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]

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]

[…] 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]

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 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]

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]

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]