33201 to 33300 most common queries

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

• Acute Episodes of Neuropathic Symptoms
• Symptoms Worsen with Fatigue and Exercise
• Mutation in the GTP Cyclohydrolase I Gene
• Cerebellar Signs May Develop
• Extrapyramidal Signs May Develop
• Hyperkeratosis Triggered by Chronic Mechanical Irritation
• Erythema due to Sudden Temperature Change or Emotional Stress
• Caused by Mutation in the Beta-4 Gap Junction Protein Gene
• Patchy Palmoplantar Keratosis (>50%)
• Mutation in the FLCN Gene
• Prominent Mandible
• Neurologic Abnormalities or Dysmorphic Features Not in All Cases
• Diagnosis within the First 3 Months of Life
• Limb Joint Contracture
• Absence of Pancreatic Autoantibodies
• Thick Ears
• Diabetic Peripheral Neuropathy in Long-Standing Cases
• Epileptiform Activity
• Diffuse Hypotonia
• Renal Tubular Cell Atrophy with Corticomedullary Cysts
• Interstitial Cell Infiltrate
• Poor Pupillary Reflexes
• Secondary Nocturnal Enuresis
• Mutation in the Nephrocystin 4 Gene
• Diminished Amplitude on ERG
• Neurofibrillary MAPT-Positive Tangles
• Mild Facial Weakness
• Range of Onset 11 to 50 Years
• MRI Shows Increased Connective Tissue and Fat
• Skeletal Muscle Biopsy Shows Dystrophic Changes
• Biceps Brachii Atrophy
• Prominent Involvement of the Biceps Brachii Muscles
• Prominent Involvement of the Quadriceps Femoris Muscles
• Onset Birth to Early Infancy
• Hyperkeratosis with Increased Melanin in Epidermis
• Rickets and Premature Primary Tooth Loss Occur in Childhood
• No Skeletal Abnormalities in Odontohypophosphatasia
• Metatarsal Stress Fracture (Hypophosphatasia Only)
• Calcium Pyrophosphate Arthropathy (Hypophosphatasia Only)
• Long Bone Pseudofractures (Hypophosphatasia Only)
• Rickets - Only Hypophosphatasia
• Osteomalacia (Hypophosphatasia Only)
• Pathologic Fractures - Only Hypophosphatasia
• Alveolar Bone Decreased
• Increased Error Rate in Memory-Guided Saccades (40%)
• Antisaccade Error Rate Increased (50%)
• Pursuit Initiation and Maintenance Impaired
• Allelic Disorder to the IVIC Syndrome
• No Tau Pathology
• Ictal EEG Shows Focal Onset Often Posterior Region of Brain
• Staring Episodes during Seizures
• Rigidity during Seizures
• Seizures Often Begin Focally with Head and Eye Deviation
• Seizures Occur in Clusters Over 1 or Several Days
• Possibly Secondary Generalized Tonic-Clonic Seizures
• Capillary Hemangioma (Forehead)
• High Narrow Iliac Wings
• Hypoplastic Permanent Teeth
• Dental Caries (Secondary Teeth)
• Hyperpigmentation (Forehead)
• Moderate Hypertension Secondary to Renal Disease
• Mild Bleeding Episodes
• Severe Thrombocytopenia (30-60 * 10^9/l)
• No Cataract
• Moderate Hypertension
• Absent Neutrophil Inclusions
• Asymptomatic Bleeding Tendencies
• Mean Platelet Volume 12.6 fl
• Platelets Decreased to Low-Normal (89-290*10^9/l)
• Prolonged Menstrual Periods
• EMG Shows Polyphasic Continuous Motor Unit Discharges
• Creatine Kinase during Episodes Increased
• Leg Stiffness
• Psammomatous Melanotic Schwannomas
• Calcified Testicular Sertoli Cell Tumor
• Pigmented Micronodular Adrenal Dysplasia
• Multiple Giant Cell Granulomas
• Autosomal Recessive Omodysplasia Has Also Been Described
• Short, Curved Humeri
• Mutation in the AP3B1 Gene
• Pulmonary Fibrosis due to Recurrent Infections
• Tyrosinase-Positive Cutaneous Albinism
• Absence of Platelet Dense Bodies
• Numbers of Natural Killer Cells Decreased
• Disorganized Lysosomal Compartments in Neutrophils
• Dental Decay due to Recurrent Bacterial Periodontitis
• Tyrosinase-Positive Ocular Albinism
• Protruding Midface
• Mild Motor Retardation
• Hypoplastic Nails (5th Toes)
• Camptodactyly (4th and 5th Fingers)
• Rudimentary Ear
• Creatine Kinase May Be Increased
• Continuous Myotonic Activity in Myotonia Permanens (EMG)
• Potassium-Sensitive Myotonia (Possibly Responsive to Acetazolamide)
• See also Distal HMN2A
• Allelic Disorder to Charcot Marie Tooth Disease Type 2F
• Mutation in the 27 kD Heat Shock Protein 1 Gene
• Paralysis and Atrophy of Distal Lower Limb Muscles
• Dysarthria, Dysphonia, or Cough Precede Onset of Ataxia