Results 51 to 60 of about 11,635 (210)
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
A New Technique To Enhance Levator Power in Congenital Ptosis
, 1991 Severe degree of congenital Ptosis, not correctable by resection of levator alone poses a formidable challenge. Results with classical technique of brow suspension with frontalis sling, leaves much to be desired.
Dr. Mrinmay Nandi
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Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis
Frontiers in Neurology, 2017 Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no ...
Michael S. Salman +3 more
doaj +1 more source
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
Muscle &Nerve, EarlyView.ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
Long-term result of direct frontalis sling with fascia lata in congenital ptosis
, 2019 Background : : Congenital ptosis with poor levator function are very difficult to make good results of functional and cosmetic side. Surgical methods for the correction of congenital ptosis with poor levator function, including frontalis suspension or ...
Hee Bae Ahn, Nam Yeong Kim
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Marcus Gunn Jaw Winking Phenomenon - A case of the widening eye
Online Journal of Health & Allied Sciences, 2009 Marcus Gunn jaw winking phenomenon is a congenital synkinetic movement due to synkinesis between the upper eyelid and the pterygoids and it accounts for 8% of patients with congenital ptosis. In rare instances, ptosis may be absent.
Kamalakshi G. Bhat, Anupama Karanth
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Muscle &Nerve, EarlyView.ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles +5 more
wiley +1 more source
Histological findings of levator muscle in unilateral congenital ptosis in different age groups
, 2020 Purpose: To evaluate the different degree of muscle atrophy in specimens of levator muscle of patients operated on for unilateral congenital ptosis, as related to the age of the patient.
Quaranta-Leoni, Flavia +7 more
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The relation between congenital ptosis and strabismus
, 2004 Amaç: Konjenital miyojenik ptozisli olgularda şaşılık ve ambliyopi birlikteliği ile ambliyopiye sebep olan faktörleri değerlendirmek. Gereç ve Yöntem: Mart 1987-Mayıs 2003 yılları arasında konjenital ptozis tanısı konan 302 olgu retrospektif olarak ...
Müslime Yalaz +3 more
core +1 more source
Journal of Bahria University Medical and Dental College, 2016 Primary congenital ptosis usually presents at the time of birth and is due to poor development of levator muscles.The frontalis brow suspension technique is being used for patients with severe congenital ptosis and a levator function of 4 mm or less ...
Kashif Ali +3 more
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