Disease Information for Oculopharyngeal muscular dystrophy

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Clinical Manifestations
Signs & Symptoms
Choking
Dysphagia for solids
Dysphagia Liquids
Dysphagia Progressive
Dysphagia Swallowing Difficulties
Swallows better/lifting chin/arching back
Takes longer to eat
Drooling
Glossoptosis/Swallowing tongue
Pharyngeal cordination problems
Bilateral Calf Pains
Head Lag Infant Sign
Leg cramps/muscle spasm/pains
Neck weakness/head nodding
Pelvic/limb girdle weakness/bilateral
Proximal lower extremity weakness
Proximal muscle weakness
Shoulder/limb girdle weakness/bilateral
Unable to stand up from sitting position
Chronic progressive ophthalmoplegia/Bilateral/CPEO
Head Neck Floppy Infant Hypotonia Sign
Hyporeflexia/DTRs decreased
Poor head control/infant
Weak reflexes
Noisy Breathing
Noisy Breathing Aged/Elderly
Noisy Breathing Child
Dysphonia
Frequent Gagging Choking Clearing throat
Garbled/nasal sounding voice
Nasal/Hyponasal sound to voice
Odd sounding voice/husky
Voice change/disturbance/Unusual
Voice/phonation problems
Difficulty climbing stairs
Head tilted back/posture sign
Weight Loss
Difficulty Focusing Eyes
Diplopia Double vision
Double Image Vision Confirmed
Eye symptoms/signs
Moves head to see/not eyes/stiff collar look
Ptosis (blepharoptosis)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Normal life span/expectation
Course/Progressive/slowly chronic illness
Onset/adult
Onset/insidious
Onset/sixth decade
Demographics & Risk Factors
Ethnic or Racial Factors
French population/ethnic stock
French-canadian ethnic stock
Hispanic/Latino population
Population Group
Child
Population/Pediatrics population
Family History
Family history/Muscle disease/Muscular dystrophy
Sex & Age Groups
Population/Adult/all
Population/Child
Population/Children/all
Population/Sixties-adult
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
Electrodiagnosis
EMG/Abnormal findings
X-RAY With contrast
Barium Swallowing Cine Abnormality
UGI/Barium swallow abnormality/esophagus
Associated Diseases & Rule outs
Rule Outs
Kearns-Sayre syndrome
Myasthenia gravis
Associated Disease & Complications
Aspiration
Muscular dystrophy
Neonatal Hypotonia/Floppy Baby Syndrome
Oculopharyngeal muscular dystrophy
Ophthalmoplegia
Ophthalmoplegia/progressive/ext/chronic
Palatopharyngeal incompetence
Pneumonia, aspiration
Pneumonia/Bronchopneumonia
Disease Mechanism & Classification
Class
CLASS/Motor neuron/unit disorder (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
CLASS/Pharyngeal involvement/disorder (ex)
CLASS/Extraocular muscle involvement/disorder (ex)
Pathophysiology
Pathophysiology/Chromsome 14 gene locus
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/PABP2 gene GCG short expansions
Pathophysiology/Poly-A binding protein 2 gene defect
Pathophysiology/Single gene locus indentified
Pathophysiology/Eye movement problems
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Hereditofamilial (category)
PROCESS/Hereditofamilial variant/pedigrees reported (ex)
PROCESS/Use/Age/atrophic disorder (category)
PROCESS/Muscular dystrophy disorder (ex)
Treatment
Drug Therapy - Indication
RX/No effective/definitive treatment yet available
Definition
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External Links Related to Oculopharyngeal muscular dystrophy
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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