Myasthenia Gravis, Neonatal
Oculomotor Nerve Diseases
Retarded growth and deficits in the enteric and parasympathetic nervous system in mice lacking GFR alpha2, a functional neurturin receptor. (1/222)Glial cell line-derived neurotrophic factor (GDNF) and a related protein, neurturin (NTN), require a GPI-linked coreceptor, either GFR alpha1 or GFR alpha2, for signaling via the transmembrane Ret tyrosine kinase. We show that mice lacking functional GFR alpha2 coreceptor (Gfra2-/-) are viable and fertile but have dry eyes and grow poorly after weaning, presumably due to malnutrition. While the sympathetic innervation appeared normal, the parasympathetic cholinergic innervation was almost absent in the lacrimal and salivary glands and severely reduced in the small bowel. Neurite outgrowth and trophic effects of NTN at low concentrations were lacking in Gfra2-/- trigeminal neurons in vitro, whereas responses to GDNF were similar between the genotypes. Thus, GFR alpha2 is a physiological NTN receptor, essential for the development of specific postganglionic parasympathetic neurons. (+info)
Congenital myasthenia gravis: clinical and HLA studies in two brothers. (2/222)Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases. (+info)
Results following treatment of third cranial nerve palsy in children. (3/222)PURPOSE: To investigate the etiology, sensory, motor, and cosmetic results of treatment for oculomotor (CNIII) palsy in children. METHODS: We conducted a retrospective review of the clinical records of children with a diagnosis of CNIII palsy who were followed up in our practice between 1981 and 1996. RESULTS: During the 15-year period, 49 children with 53 affected eyes were followed for a mean of 5.5 years. CNIII palsy was congenital in one third of cases and secondary to postnatal trauma in another third. Thirty-three of the eyes were affected before visual maturation (age 8 years) and 27 eyes developed amblyopia. None of the 6 eyes with amblyopia in which visual acuity could be quantitated had measurable improvement of Snellen acuity after treatment. Overall, visual acuity was between 6/5 and 6/12 at the last follow-up visit in 56% of affected eyes. Ocular alignment was greatly improved after recess-resect procedures on the horizontal rectus muscles, but binocular function was difficult to preserve or restore. Blepharoptosis improved after levator palpebrae muscle resection or eyelid suspension procedures. CONCLUSIONS: CNIII palsy may undergo partial resolution in children, but surgical treatment is frequently necessary. Although surgery can result in cosmetically acceptable alignment of the eyes, it rarely results in restoration or achievement of binocular function. Multiple procedures are often necessary to maintain good ocular alignment. Several surgical procedures may be needed to correct related blepharoptosis and maintain an acceptable eyelid position. Treatment of amblyopia is only effective in maintaining the level of visual acuity present at the onset of the CNIII palsy, and improvement in acuity is difficult to achieve. (+info)
CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. (4/222)PURPOSE: To define the clinical characteristics and determine the gene localization for a previously undescribed form of congenital fibrosis of the extraocular muscles (CFEOM), referred to as CFEOM type 3 (CFEOM3). METHODS: A large family with CFEOM was identified, and participating individuals underwent ophthalmologic examination and donated blood for genetic analysis. The family's disorder was tested for linkage to the known CFEOM loci, followed by a genome-wide search and linkage refinement using polymorphic DNA markers. RESULTS: Thirty-eight members of this Canadian family participated in the study. Affected individuals are born with a nonprogressive eye movement disorder characterized by variable expression of ptosis and restrictive external ophthalmoplegia. Severely affected individuals have ptosis, primary gaze fixed in a hypo- and exotropic position, and marked restriction of eye movement bilaterally. Mildly affected individuals have normally positioned globes with a limitation of vertical gaze. Moderately affected individuals have asymmetrical involvement with one eye severely and one eye mildly affected. The disorder is autosomal dominant with variable expression and probable incomplete penetrance. Genetic analysis reveals linkage to markers on 16q24.2q24.3. A maximum lod score of 5.8 occurs at markers D16S3063 and D16S689, and the CFEOM3 disease gene is located within a 5.6-cM region flanked by D16S486 and D16S671. CONCLUSIONS: These data establish that CFEOM3 is a phenotypically variant and genotypically distinct form of CFEOM with linkage to chromosome 16qter. The authors have previously demonstrated that CFEOM1 results from a developmental absence of the superior division of the oculomotor nerve. The authors hypothesize that CFEOM3 results from a defect analogous to, but distinct from CFEOM1. (+info)
Extraocular muscle responses to high dose intravenous methylprednisolone in myasthenia gravis. (5/222)Three patients with generalised myasthenia gravis and three with ocular myasthenia gravis received two to five courses of high dose intravenous methylprednisolone because of the failure of standard immunomodulating therapies. Changes in myasthenic signs were assessed using a four step system for grading muscle weakness and fatiguability in 10 test items. Although a brief and modest amelioration was found from day 1 to day 2 after the initial infusion in two patients with generalised myasthenia gravis, all three experienced a prolonged phase of worsening followed by improvement before the next course. Conversely, for two of the patients with ocular myasthenia gravis, a transient but dramatic improvement of ptosis and ocular immobility was noted from 90 minutes to 5 hours after initiating the first infusion, followed by mild or no exacerbation. This 3 hour improvement may be related not only to possible differences in the neuromuscular junction, but also to corticosteroids unmasking the central adaptation for the peripheral ocular muscle weakness by increasing the acetylcholine release. (+info)
Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region. (6/222)To clone the goat Polled Intersex Syndrome (PIS) gene(s), a chromosome walk was performed from six entry points at 1q43. This enabled 91 BACs to be recovered from a recently constructed goat BAC library. Six BAC contigs of goat chromosome 1q43 (ICC1-ICC6) were thus constructed covering altogether 4.5 Mb. A total of 37 microsatellite sequences were isolated from this 4.5-Mb region (16 in this study), of which 33 were genotyped and mapped. ICC3 (1500 kb) was shown by genetic analysis to encompass the PIS locus in a approximately 400-kb interval without recombinants detected in the resource families (293 informative meioses). A strong linkage disequilibrium was detected among unrelated animals with the two central markers of the region, suggesting a probable location for PIS in approximately 100 kb. High-resolution comparative mapping with human data shows that this DNA segment is the homolog of the human region associated with Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES) gene located in 3q23. This finding suggests that homologous gene(s) could be responsible for the pathologies observed in humans and goats. (+info)
A novel X-linked dominant condition: X-linked congenital isolated ptosis. (7/222)We present a large family with a previously undescribed condition: X-linked dominant congenital bilateral isolated ptosis. Linkage analysis defined a critical region between Xq24 and Xq27.1, with a maximum single-point LOD score of 2.88 at DXS1047 and DXS984. Male and female family members are equally affected, providing an example of an X-linked, truly dominant condition. (+info)
Reoperation in acquired involutional ptosis. (8/222)Postoperative upper lid asymmetry is a common problem following ptosis surgery. Recently we performed multiple ptosis operative procedures to correct lid asymmetry in the management of a patient with bilateral acquired upper eyelid ptosis. The patient's eyelids were corrected successfully after five procedures. We retrospectively reviewed the treatment of this patient with unsatisfactory results. The medical literature was reviewed for further insight into the common problem of reoperation after ptosis surgery. (+info)
Blepharoptosis can affect one or both eyes and may cause symptoms such as difficulty opening the eye, blurred vision, and eye fatigue. Treatment options for blepharoptosis include eyelid surgery, botulinum toxin injections, and other therapies that aim to improve eyelid function and reduce symptoms.
The word "blepharoptosis" comes from the Greek words "blepharon," meaning eyelid, and "ptosis," meaning falling or drooping. It is commonly used in ophthalmology and other medical fields to describe this specific condition.
Myasthenia gravis neonatal typically presents in the first few weeks of life and can be associated with other autoimmune disorders, such as type 1 diabetes or thyroiditis. The symptoms may include:
* Muscle weakness, particularly in the face, neck, and limbs
* Difficulty feeding or swallowing
* Poor muscle tone
* Delayed reaching developmental milestones
* Weak cry
The diagnosis of myasthenia gravis neonatal is based on a combination of clinical features, laboratory tests, and imaging studies. Treatment typically involves the use of anticholinesterase medications, such as pyridostigmine, to improve muscle strength and function. In severe cases, intravenous immunoglobulin (IVIG) or plasmapheresis may be necessary.
The prognosis for myasthenia gravis neonatal is generally good if the diagnosis is made early and appropriate treatment is initiated promptly. However, in some cases, the condition can persist into childhood or even adulthood, and there may be a risk of developing other autoimmune disorders. Regular follow-up with a multidisciplinary team of healthcare providers is important to monitor the baby's progress and address any complications that arise.
The main symptoms of Hallermann's Syndrome are:
* Hearing loss: This can range from mild to profound and is usually present at birth or becomes apparent within the first few months of life.
* Balance problems: Individuals with Hallermann's Syndrome may experience difficulties with balance and coordination, which can increase their risk of falling.
* Tinnitus (ringing in the ears): Tinnitus is a common symptom of Hallermann's Syndrome and can be very distressing for those affected.
* Vision problems: Some individuals with Hallermann's Syndrome may experience vision loss or abnormalities, such as nystagmus (involuntary eye movements).
Hallermann's Syndrome is a rare condition, and the exact prevalence is not well established. However, it is estimated to affect approximately 1 in 250,000 individuals worldwide. The syndrome can be diagnosed through a combination of clinical evaluation, imaging studies (such as CT or MRI scans), and genetic testing.
There is currently no cure for Hallermann's Syndrome, but there are various treatments available to manage the symptoms. These may include hearing aids or cochlear implants for hearing loss, physical therapy to improve balance and coordination, and medications to control tinnitus. In some cases, surgery may be necessary to correct anatomical abnormalities in the inner ear.
In summary, Hallermann's Syndrome is a rare genetic disorder that affects the development of the eyes, ears, and nervous system, leading to hearing loss, balance problems, tinnitus, and vision abnormalities. While there is no cure for the condition, various treatments are available to manage the symptoms and improve quality of life.
There are several types of ophthalmoplegia, including:
1. External ophthalmoplegia: This type affects the muscles that control lateral and vertical movements of the eyes.
2. Internal ophthalmoplegia: This type affects the muscles that control rotational movements of the eyes.
3. Superior oblique paresis: This type affects the superior oblique muscle, which controls downward and outward movements of the eye.
4. Inferior oblique paresis: This type affects the inferior oblique muscle, which controls upward and outward movements of the eye.
Symptoms of ophthalmoplegia may include difficulty moving the eyes, double vision, droopy eyelids, and blurred vision. Treatment options depend on the underlying cause of the condition and may include physical therapy, prism lenses, or surgery.
Damage or dysfunction of the oculomotor nerve can result in a range of symptoms, including double vision (diplopia), drooping eyelids (ptosis), difficulty moving the eyes (ophthalmoplegia), and vision loss. The specific symptoms depend on the location and extent of the damage to the nerve.
Some common causes of oculomotor nerve diseases include:
1. Trauma or injury to the head or neck
2. Tumors or cysts in the brain or skull
3. Inflammatory conditions such as multiple sclerosis or sarcoidosis
4. Vasculitis or other blood vessel disorders
5. Certain medications, such as anticonvulsants or chemotherapy drugs
6. Nutritional deficiencies, such as vitamin B12 deficiency
7. Infections, such as meningitis or encephalitis
8. Genetic disorders, such as hereditary oculopharyngeal dystrophy
9. Ischemic or hemorrhagic strokes
10. Neurodegenerative diseases, such as Parkinson's disease or amyotrophic lateral sclerosis (ALS).
The diagnosis of oculomotor nerve diseases typically involves a comprehensive eye exam, neurological evaluation, and imaging studies such as MRI or CT scans. Treatment depends on the underlying cause and may include medications, surgery, or other interventions to address the underlying condition and relieve symptoms. In some cases, surgical intervention may be necessary to repair or replace damaged portions of the nerve.
Blepharoptosis-myopia-ectopia lentis syndrome
Superior tarsal muscle
Malpuech facial clefting syndrome
Lenz microphthalmia syndrome
Di Long (extract)
List of diseases (B)
List of diseases (V)
Thai symphalangism syndrome
List of MeSH codes (C11)
Ptosis (Blepharoptosis) in Adults: Background, Pathophysiology, Epidemiology
Blepharoptosis - PubMed
Subjects: Blepharoptosis -- congenital - Digital Collections - National Library of Medicine Search Results
Blepharoptosis | Palmetto Profiles
Etiological pattern of blepharoptosis among patients presenting in teaching hospital.
Deep learning-based image analysis for automated measurement of eyelid morphology before and after blepharoptosis surgery. |...
Eyelid drooping: MedlinePlus Medical Encyclopedia
Loss of Vertical Palpebral Fissure Height on Downgaze in Acquired Blepharoptosis-Reply | JAMA Ophthalmology | JAMA Network
Elder JE[au] - Search Results - PubMed
Chanarin-Dorfman syndrome - About the Disease - Genetic and Rare Diseases Information Center
Waardenburg syndrome type 2 - About the Disease - Genetic and Rare Diseases Information Center
Wiedemann-Steiner Syndrome - GeneReviews® - NCBI Bookshelf
DailyMed - UPNEEQ- oxymetazoline hydrochloride ophthalmic solution/ drops
A Morphometric Study of the Extraocular Muscles
Ophthalmology | medRxiv
Botulinum Toxin A Has Modest Benefit in Chronic Migraine
Upneeq Eye Rejuvenation
Upneeq In Encino, CA | Glow Aesthetic Center
CLINICA NEUROL, 59: 360 |364, 2019 | Rinsho Shinkeigaku (Clinical Neurology) | JAPANESE SOCIETY OF NEUROLOGY
- Ptosis, also referred to as blepharoptosis, is defined as an abnormal low-lying upper eyelid margin with the eye in primary gaze. (medscape.com)
- Acquired blepharoptosis, also known as ptosis or upper eyelid ptosis , is a condition marked by a droopy upper eyelid. (glowmedspaencino.com)
- The treatment for more severe cases of blepharoptosis depends on whether the ptosis is causes by a disease or weak muscles. (glowmedspaencino.com)
- The most obvious sign of acquired blepharoptosis is a droopy upper eyelid. (glowmedspaencino.com)
- Dr. Jennifer Armstrong and her team of cosmetic dermatology specialists are proud to offer Upneeq as a non-invasive solution for patients with blepharoptosis (droopy eyelids), who may not be ready for eyelid lift surgery. (armstrongmd.com)
- 14. Major review: the clinical spectrum of pediatric myasthenia gravis: blepharoptosis, ophthalmoplegia and strabismus. (nih.gov)
- The FDA has approved a prescription eyedrop known as UPNEEQ to treat acquired blepharoptosis in adults. (glowmedspaencino.com)
- How Does UPNEEQ Treat Acquired Blepharoptosis? (glowmedspaencino.com)
- Formulated with oxymetazoline ophthalmic, Upneeq is specifically created for patients with acquired blepharoptosis, a type of eyelid sagging that can develop over time. (armstrongmd.com)
- Understanding the cause of your blepharoptosis is essential before trying Upneeq. (armstrongmd.com)
- Progressive, usually symmetric blepharoptosis with or without dysphagia appears in most instances in the fifth decade in oculopharyngeal muscular dystrophy (OPMD). (nih.gov)
- An 84-year-old woman developed blepharoptosis, diplopia, weakness of extremities, and dysphagia with elevation of serum CK levels after treatment with nivolumab against renal cell carcinoma. (neurology-jp.org)
- Cases of blepharoptosis that don't impact the patient's vision don't require treatment unless the patient is unhappy with their appearance. (glowmedspaencino.com)
- Blepharoptosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
- What are the Signs of Acquired Blepharoptosis? (glowmedspaencino.com)
- For cases of blepharoptosis related to weakened muscles, surgery is the conventionally used treatment. (glowmedspaencino.com)
- This graph shows the total number of publications written about "Blepharoptosis" by people in this website by year, and whether "Blepharoptosis" was a major or minor topic of these publications. (musc.edu)
- A review of acquired blepharoptosis: prevalence, diagnosis, and current treatment options. (nih.gov)
- Proximal tarsal attachments of the levator aponeurosis: implications for blepharoptosis repair. (uchicago.edu)
- Acquired blepharoptosis that's related to an underlying illness will require the illness to be treated for successful treatment. (glowmedspaencino.com)
- How Do You Treat Blepharoptosis? (glowmedspaencino.com)
Orbicularis oculi muscl2
- Frontalis muscle flap advancement for correction of blepharoptosis. (medscape.com)
- Carter SR, Meecham WJ, Seiff SR. Silicone frontalis slings for the correction of blepharoptosis: indications and efficacy. (medscape.com)
- Advancement of the Müller muscle-levator aponeurosis composite flap for correction of blepharoptosis. (medscape.com)
- Essentially, the method for selecting the appropriate blepharoptosis treatment has been well documented and more surgeons choose to use the Müller aponeurosis composite flap advancement technique. (medscape.com)
- Transcutaneous blepharoptosis surgery - advancement of levator aponeurosis. (medscape.com)
- Blepharoptosis and external ophthalmoplegia associated with long-term antiretroviral therapy. (medscape.com)