34901 to 35000 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Teeth Defects
• Absence of Jaw Rotation during Chewing
• Unilateral Tongue Paresis
• Tongue Movement Limited
• Tongue Hypoplasia (77%)
• High-Arched Palate (61%)
• Epicanthal Folds (89%)
• Congenital Fibrosis of the Extraocular Muscles (9%)
• Duane Retraction Syndrome (34%)
• Conjugated Horizontal Gaze Palsy
• Adduction Palsy Usually Bilateral
• Abduction Palsy - Usually Bilateral
• External Ear Defects (47%)
• Lower Facial Muscles Possibly Spared
• Facial Paresis - Usually Bilateral
• Poorly Developed Scrotum
• Peripheral Neuropathy Has Been Reported in Rare Cases
• Loss of Sensation in the Trigeminal Nerve Region of the Face (11%)
• MRI Shows Congenital Abnormalities of the Posterior Fossa
• MRI Shows Absence of the Facial Nerve
• Axial Imbalance (34%)
• Poor Coordination (83%)
• Clumsiness (82%)
• Other Cranial Nerves May Be Involved
• Failure of Premolars and Molars to Meet at Occlusal Plane
• Simplified Helices
• High, Broad Forehead
• Height >90th Percentile
• Aneuploidy in Offspring Increased
• Tendency to Chromosomal Non-Disjunction
• Chromosomal Mosaicism in Cultured Cells
• Hands Clenched at Birth but Loosen in Infancy
• Downturning Toes
• Flexion of Fingers When Hand Dorsiflexed - Pseudocamptodactyly
• Short Gastrocnemius
• Coronoid Process Enlarged
• Short Stature - 3rd - 25th Percentile
• Wasting of Hands Often Occurs First
• Motor Nerve Conduction Velocity Normal
• See Also HMN2B
• Rapid Disease Progression
• Mean Age of Onset 21 Years
• Caused by Mutation in the Heat Shock, 22 kD, Protein 8 Gene
• No Sensory Deficit
• Hyporeflexia in the Lower Limbs
• Paresis of Extensor Muscles of the Big Toe Is Presenting Symptom
• Onset Usually in Early Childhood (Range. Birth to Adulthood)
• Long Finger Flexion Contractures of the Last Four Fingers
• Mild Muscle Atrophy (Proximal > Distal)
• Extensor Muscle Weakness More Severe than Flexor Muscle Weakness
• Proximal Muscle Weakness More Severe than Distal Muscle Weakness
• Decreased Fetal Movements May Occur
• Variable Clinical Phenotype
• CK-MB Increased
• Muscle Symptoms Precede Cardiac Symptoms
• Onset before Age 20 Years
• Atrioventricular Conduction Disturbances
• Muscle Biopsy Shows Mild Dystrophic Changes
• Distinct from Myasthenia Gravis
• Favorable Response to Immunotherapy
• Variable Response to Acetylcholinesterase Inhibitors
• Acetylcholine Receptor Autoantibodies in a Subset of Patients
• Shortened Duration of Motor Unit Potentials
• Upper and Lower Limb Involvement
• Symptoms Are Often Responsive to Alcohol
• Jerking Movements of Face and Limbs
• Non-Specific Myopathy without Rimmed Vacuoles (Biopsy)
• Atrophy of Neck Muscles May Occur Later
• Weakness of Neck Muscles Possibly Later
• Weakness of Long Finger Extensor Muscles (Occurs Later)
• 'Hanging' Big Toe
• Weakness of Anterior Compartment Tibial Muscles
• Some Patients May Be Asymptomatic
• Difficulties with Night Vision
• See Also Autosomal Recessive Form Which Is More Common and More Severe
• Onset in Childhood - Adolescence
• No Muscle Weakness
• Absence of Myotonia in Infancy
• EMG: Myotonic Discharges
• Recurrent Intestinal Pseudoobstruction
• Passive Aggressive Traits
• Obsessive-Compulsive Traits
• Speech Disability
• Mild Cognitive Deterioration in Adults
• Centrofacial or Mucosal Lentigines
• Eyelid Myxoma
• Congenital Malalignment of Great Toenails
• Multiple Small Punctate Keratoses - Palms and Soles
• Absent Fingerprints
• Yellow Discoloration
• Elongated Radius with Hypoplasia of Radial Head
• Iliac Horns Arising from External Iliac Fossa
• Malformed Sternum
• Glenoid Fossa Hypoplasia
• Mutation in the HCRT Gene Has Been Identified in 1 Patient
• Caused by Mutation in the Hypocretin Gene (HCRT)
• HLA-DQw6 Association (DQB1*0602)
• Rapid Weight Gain May Occur
• Nocturnal Sleep Disruption
• Sleep Paralysis at Beginning or End of Sleep Period