She presented with congenital ptosis and restricted eye movements. At the age of 2 years she had bilateral ptosis repair. [cags.org.ae]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]

Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. [malacards.org]

RESULTS Cytogenetic analysis A balanced translocation t(2;13)(q36;q11) was observed in II-1, which was also present in I-1 and III-2. [jmg.bmj.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

N Engl J Med 354:462–471 PubMed CrossRef Google Scholar Benatar M, Kaminski H (2006) Medical and surgical treatment for ocular myasthenia. [link.springer.com]

Botulism: the challenge of diagnosis and treatment. Rev Neurol Dis. 2006;3:182-189. Chalk C, Benstead TJ, Keezer M. Medical treatment for botulism. Cochrane Database Syst Rev. 2011;(3):CD008123. Dembek ZF, Smith LA, Rusnak JM. [tankonyvtar.hu]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Prosthetic replacement of the ocular surface ecosystem as treatment for ocular surface disease in patients with a history of Stevens-Johnson syndrome/toxic epidermal necrolysis. [ncbi.nlm.nih.gov]

BMJ 345:8497 CrossRef Google Scholar Spillane J, Hirsch NP, Kullmann DM, Taylor C, Howard RS (2014) Myasthenia gravis ‐ treatment of acute severe exacerbations in the intensive care unit results in a favourable long‐term prognosis. [link.springer.com]

High-resolution magnetic resonance imaging of the extraocular muscles and nerves demonstrates various etiologies of third nerve palsy. Am J Ophthalmol 2007;143:280–287. 15. Sato M. [ekjo.org]

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. [ncbi.nlm.nih.gov]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

The precise identification of the CFEOM3 genes should help to elucidate the pathophysiology of this disorder and clarify the basis of clinical heterogeneity observed in CFEOM. [jmg.bmj.com]

Semin Neurol 24:155–163 PubMed CrossRef Google Scholar Dalakas MC (2013) Pathophysiology of autoimmune polyneuropathies. [link.springer.com]

More on Finger camptodactyly » Wrist flexion contracture : Summary : A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. 3, 4 ... ... [familydiagnosis.com]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]

Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. [ghr.nlm.nih.gov]

Initial calculations were made assuming that II-8 and II-9 were not consanguineous, in order to prevent the lower location scores that would have been obtained because of the limited density and informability of the marker grid in the genome-wide marker [jmg.bmj.com]