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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