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41001 to 41100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Hip Defects
Teeth Defects
Absence of Jaw Rotation during Chewing
Weak Bite
Unilateral Tongue Paresis
Tongue Movement Limited
Asymmetric Tongue
Tongue Hypoplasia (77%)
High-Arched Palate (61%)
Flattened Nasal Bridge
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
Lower Facial Height Reduced
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
Intact Sensation
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
Atrophy of Anterior Compartment Tibial Muscles
Weakness of Anterior Compartment Tibial Muscles
Some Patients May Be Asymptomatic
Muscle Cramps at Rest
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
Uncoordinated Uterine Contractions
Passive Aggressive Traits
Obsessive-Compulsive Traits
Speech Disability
Mild Cognitive Deterioration in Adults
Centrofacial or Mucosal Lentigines
Eyelid Myxoma
Conjunctival and Scleral Pigmentation
Congenital Malalignment of Great Toenails
Multiple Small Punctate Keratoses - Palms and Soles
Absent Fingerprints
Yellow Discoloration