40101 to 40200 most common queries

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

• Possibly Hyperreflexia
• Early-Onset Parkinsonism
• Cerebral Malformations
• Erythrocyte Plasmalogen Decreased
• Plasma Phytanic Acid Normal
• No Alkyl-DHAP Synthase Activity
• Severely Shortened Femora
• Severely Shortened Humeri
• Small Simple Ears
• Increased Male-to-Female Ratio (>7:1)
• Rapidly Progressive Course
• Splitting of the Intima and/or Internal Elastic Membrane
• Severe Hyalinosis
• Fibrous Intimal Proliferation in Small Cerebral Arteries
• Arteriosclerotic Changes in Small Cerebral Arteries
• Preservation of U Fibers
• Subcortical Focal Lacunae
• Diffuse White Matter Abnormalities
• Allelic Disorder to Northern Epilepsy
• Most Patients Lose Ambulation 2 Years after Onset
• Onset Age 2 to 7 Years
• Mutations in the CLN8 Gene
• Intracellular Fingerprint Profiles on Ultrastructural Analysis
• See SPG5A
• Mildly Short Hands
• Varus or Valgus Knee Deformity
• Flattened, Irregular Epiphyses
• Onset of Hearing Loss in Late Childhood
• Asymptomatic - Easy Bruisability, Postoperative Hemorrhage
• Variable Bleeding Episodes
• Normal to Prolonged Bleeding Time
• No Kidney Disease
• Genetic Anticipation Has Been Observed
• Onset in Fourth and Fifth Decades
• Sural Nerve Sensory Responses Absent or Reduced
• Maternal Anticipation Bias
• Patients Retain Ambulation Even after Long Disease Course
• Pyramidal Tract Dysfunction
• Mild Facial Myokymia
• Stance Ataxia
• Mean Age at Onset: 45 Years
• Mutation in the PSEN1 Gene
• Mutation in the MAPT Gene
• Ubiquitin Positive Inclusions
• Tau-Positive Inclusions May Be Found
• Motor Symptoms May be Present
• Decrease in Abstract Thinking
• Slow Progression without Marked Disability
• Cardiomyopathy Is Not a Feature
• Replacement of Affected Muscle Tissue with Fatty Tissue
• Ankle Dorsiflexion Reduced
• Atrophy of the Muscles in the Anterior Compartment of the Lower Leg
• Weakness of the Muscles in the Anterior Compartment of the Lower Leg
• Interfamilial and Intrafamilial Clinical Heterogeneity
• Nerve Biopsy Often Consistent with Axonal Neuropathy
• Spasticity May Be Present
• Slow, Paraparetic Gait
• Mean Age at Onset 16.5 Years
• Postural Tremor - Upper Limb - Onset in Fourth Decade
• Weakness of Hip and Ankle Flexion
• Flat Irregular Acetabular Margins
• Squared Iliac Bones
• Coronal Vertebral Clefts (T11-S2)
• Abnormal Dental Cusp Morphology
• Overfolded Rumpled Ears
• Length <5th Percentile
• PAVM More Frequent in HHT1 than HHT2
• Definite Diagnosis if 3/4 Criteria Present
• A Subset of Patients Develop Pulmonary Arterial Hypertension
• Nail Bed Telangiectasia
• Telangiectasis in Stomach, Duodenum, Small Bowel and Colon
• Associated with Deletion at 2q37
• Alpha-Subunit of Gs Normal
• Mitochondrial Paracrystalline Inclusion Bodies
• Electron Microscopy Shows Iron-Loaded Mitochondria
• Ringed Sideroblasts on Peripheral Smear and Bone Marrow
• High Philtrum
• Reduced Penetrance (ca. 54%)
• Age at Onset from 3 to 51 Years
• Other Auras May Occur
• Focal Seizures with Frontal Lobe Origin
• Possibly Aura
• Mouth Movements
• Tonic Head Extension
• Arm Flexion
• Easily Frustrated
• Incomprehensible Speech
• Speech Limited to Single Word or No Words
• Verbal Comprehension Limited
• Onset 70-90 Years
• Amyloid Deposits in Corneal Stroma
• Thick Ropy Lattice Lines in the Corneal Stroma
• Mutation in the ALG1 Gene
• Abnormal Isoelectric Focusing of Serum Transferrin (Type I Pattern)
• Recurrent Refractory Seizures
• Clinodactyly - 4th and 5th Fingers
• Joint Laxity (Shoulder, Wrist, Finger, Hip, Knee)
• Flat Facies
• Mutation in the Enamelin Gene
• See also Autosomal Dominant Sick Sinus Syndrome - 163800