33101 to 33200 most common queries

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

• Onset Usually in First or Second Decades
• Abnormal Pupillary Light Reflexes
• Brainstem Auditory Evoked Potentials Prolonged
• Secondary Axonal Degeneration and Regeneration
• Distal Sensory Impairment of Touch, Vibration, Proprioception
• Proximal Lower Limb Involvement
• Possibly Distal Upper Limb Involvement (Later)
• Some Patients May Become Wheelchair Bound
• Mutation in the Myosin Heavy Chain 3 Gene
• Precocious Arthrosis
• Multimerin Decreased
• Beta-Thromboglobulin Normal
• Normal Thrombospondin
• Von Willebrand Factor Normal
• Platelet Fibrinogen Normal
• Absent Platelet Aggregation Response to Epinephrine
• Platelet Count Mildly Decreased to Low-Normal
• Spontaneous Resolution Usually after 12 Months of Age
• Average Onset 6-10 Months
• Ictal EEG Showes Focal Onset in Central or Parietal or Temporal Regions
• Hypertonia and Rigidity during Seizures
• Undertubulation (Lack of Diaphyseal Modeling)
• Crumpled Long Bones
• Osteopenic Long Bones
• Skull Softening
• Mutation in the Leucine and Proline Enriched Proteoglycan 1 Gene
• Overmodification of Type 1 Collagen
• Long Phalanges
• Externally Rotated and Abducted Legs
• Severe Osteopenia
• Patients Often Become Wheelchair-Bound
• Allelic Disorder to Benign Hereditary Chorea Which Is Less Severe
• 'Compensated Hypothyroidism' with Increased TSH and Normal T4
• Responsive to Oral Mannose Therapy
• Bleeding Episodes
• Females More Severely Affected than Males
• Calcaneocuboidal Fusions
• Broad, Thimble-Like Middle Phalanges
• Bulging of Temporal Fossae
• Caused by Mutation in the CCM2 Gene
• Malformed Toes
• Selective Tooth Agenesis
• Mutation in the NPHP3 Gene
• Variable Rate of Progression
• Profound Deafness by 6th Decade
• Hearing Loss Begins with Loss of High Frequencies
• Thyroxine May Be Decreased or Normal
• Difficulty Walking in Childhood
• Hypoplasia of the Thyroid Gland in Some Patients
• Rarely Patients May be Asymptomatic
• Mutation in the Complement Factor I Gene
• Susceptibility to Haemophilus Influenzae Infections Increased
• Increased Susceptibility to Streptococcus Pneumoniae Infections
• Susceptibility to Neisseria Meningitidis Infections Increased
• Complement C3 Decreased
• Complement Factor B Decreased
• Depletion of Complement Components
• Complement Factor I Decreased
• Patients May Become Ventilator-Dependent
• Contractures Hand and Finger Muscles
• Scapuloperoneal Muscular Atrophy due to Denervation
• Distal Muscle Atrophy due to Denervation
• Sural Nerve Biopsy Shows Normal Findings
• EMG Shows Neurogenic Changes and Denervation
• Difficulty Walking and Climbing Stairs
• Distal Muscle Weakness and Atrophy due to Motor Neuronopathy
• Bilateral Prelingual Sensorineural Hearing Loss
• Rod-Cone Dystrophy on ERG
• Onset of Symptoms Age 5-30
• Mutation in the NR2E3 Gene
• Reduced Penetrance
• Episodes Not Triggered by Alcohol, Caffeine or Stress
• Episodic Dystonia that Primarily Affects Hands and Feet
• Ossification Underlying the Skin Defect Decreased
• Cores Extend Along Length of Muscle Fiber
• Mildly Decreased Intelligence Has Been Reported
• Type 2 - Vitreous Phenotype
• Onset of Osteoarthritis in Teens to Early Adulthood
• Enlarged PIP and DIP Joints
• MCP Joints Enlarged
• Osteoarthritis - Hips Knees Shoulders Wrists Hands
• Height Compared to Unaffected Siblings Decreased
• Mutation in the Phosphatase and Tensin Homolog Gene
• Levodopa-Induced Dyskinesias
• Diurnal Fluctuation
• No Abdominal or Neurologic Symptoms in Harderoporphyria
• Attacks Precipitated by Drugs, Alcohol, Endocrine Factors (HCP)
• Attacks Rarely Occur before Puberty
• Respiratory Paralysis (HCP)
• Neonatal Hemolytic Anemia (Harderoporphyria)
• Harderoporphyrin Excretion Increased
• Fecal Coproporphyrin Isomer III:I Ratio Increased (HCP)
• Diarrhea (HCP)
• Abdominal Pain (HCP)
• Splenomegaly - Harderoporphyria
• Hepatomegaly - Harderoporphyria
• Paranoia (HCP)
• Hallucinations (HCP)
• Insomnia (HCP)
• Depression (HCP)