Myopathic Facies: Causes & Reasons

Possible Causes for Myopathic Facies

facies, eyelids that remain partly open in sleep, and inability to whistle or to purse the lips (tapir mouth). [whonamedit.com]

Begins with weakness of the muscles of the face and shoulder girdle, causing inability to raise the arms above the head (in female, noticed while combing hair), myopathic [whonamedit.com]

Secondary Myopathy

Drooling, tearing, sleep with eyes open, myopathic facies, inability to whistle, blow balloons Difficulty chewing, jaw weakness Tongue weakness - dysarthria, dysphagia, swallowing [sites.google.com]

Myasthenia Gravis

What is myasthenia gravis? Myasthenia gravis is a chronic autoimmune neuromuscular disease that causes weakness in the skeletal muscles, which are responsible for breathing and moving parts of the body, including the arms and legs. The name myasthenia gravis, which is Latin and Greek in origin, means "grave, or[…] [ninds.nih.gov]

Cerebrotendinous Xanthomatosis

Continuing Education Activity Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease associated with abnormally high cholestanol levels in the blood, accumulating in the nervous system and other organ systems. The cholestanol accumulates most notably in the brain, tendons, eyes, arteries[…] [ncbi.nlm.nih.gov]

Lambert-Eaton Syndrome

INTRODUCTION Lambert-Eaton myasthenic syndrome (LEMS) is an uncommon disorder of neuromuscular junction transmission with the primary clinical manifestation of muscle weakness. Knowledge of subtle clinical features and laboratory abnormalities that accompany LEMS permits the early identification of the disorder.[…] [uptodate.com]

Native American Myopathy

facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis. [jhu.pure.elsevier.com]

[…] affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey–Fineman–Ziter syndrome (CFZS) based on features of hypotonia, myopathic [ingentaconnect.com]

[…] affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic [jhu.pure.elsevier.com]

Congenital Muscular Dystrophy Type 1A

Case 2 represented a 6 month old girl suffering from congenital hypotonia, proximal limb girdle weakness, myopathic facies and normal head circumference. [cags.org.ae]

He had joint contractures of upper and lower extremities, myopathic facies, and pectus carinatum. His head circumference was normal. [pediatricneurosciences.com]

He had general hypotonia, myopathic facies, pectus excavatum, and he was not able to sit and stand. Deep tendon reflexes and Babinski's sign were negative. [pediatricneurosciences.com]

Multicore Myopathy with External Ophthalmoplegia

facies ; Nemaline bodies ; Neonatal hypotonia ; Neonatal onset ; Phenotypic variability ; Polyhydramnios ; Proximal muscle weakness ; Ptosis ; Pulmonary hypoplasia ; Recurrent [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 [rarediseases.info.nih.gov]

facies Increased variability in muscle fiber diameter Open mouth Long face Plantar flexion contractures Need help with a diagnosis? [mendelian.co]

Muscular Dystrophy-Dystroglycanopathy Type B6

He had joint contractures of upper and lower extremities, myopathic facies, and pectus carinatum. His head circumference was normal. [pediatricneurosciences.com]

Hypotonia and myopathic facies may be present in such individuals, while contractures of joints may also be present. [en.wikipedia.org]

Physical examination Physical examination presented myopathic facies and a single crease of the right palm, the latter also observed in her father. [spandidos-publications.com]

Myosin Storage Myopathy

[…] abnormalities ; Elevated serum creatine phosphokinase ; High palate ; Hypertrophic cardiomyopathy ; Myopathic facies ; Respiratory insufficiency ; Scapuloperoneal amyotrophy [mousephenotype.org]

Showing of 24 | 5%-29% of people have these symptoms High palate Elevated palate Increased palatal height [ more ] 0000218 Myopathic facies 0002058 Scoliosis Abnormal curving [rarediseases.info.nih.gov]

[…] genetic, neurological Phenotypes Autosomal recessive inheritance ; Centrally nucleated skeletal muscle fibers ; Congestive heart failure ; Dilated cardiomyopathy ; EMG: myopathic [mousephenotype.org]

X-Linked Mandibulofacial Dysostosis

facies, retrognathia, prominent nose with squared-off nasal tip UNK Treacle TCOF1 5q32-q33.1 154500 Treacher Collins mandibulofacial dysostosis 154500 AD malar hypoplasia [widesmiles2.org]

[…] cleft, cleft lip, bulbous nose, square nasal tip, short philtrum, micrognathia, Velocardiofacial syndrome 192430 AD Pierre Robin syndrome, cleft palate, small open mouth, myopathic [widesmiles2.org]

Zebra Body Myopathy

facies • Nutritional myopathy • Potassium depletion myopathy • Protein deficiency myopathy • Reducing-body myopathy • Sarcotubular myopathy • Symptomatic inflammatory myopathy [coding-pro.com]

facies Nutritional myopathy Potassium depletion myopathy Protein deficiency myopathy Proximal myopathy Reducing-body myopathy Sarcotubular myopathy Symptomatic inflammatory [emedcodes.com]

Clinical examination findings include myopathic facies, hypotonia, diminished deep tendon reflexes, reduction in muscle power more significantly in the axial and proximal [iamg.in]

Congenital Merosin-Positive Muscular Dystrophy

He had joint contractures of upper and lower extremities, myopathic facies, and pectus carinatum. His head circumference was normal. [pediatricneurosciences.com]

Hypotonia and myopathic facies may be present in such individuals, while contractures of joints may also be present. [ipfs.io]

He had general hypotonia, myopathic facies, pectus excavatum, and he was not able to sit and stand. Deep tendon reflexes and Babinski's sign were negative. [pediatricneurosciences.com]

3-Methylglutaconic Aciduria Type 5