37001 to 37100 most common queries

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

• Delayed Acquisition of Motor Skills
• Progressive Retinitis Pigmentosa
• Moderate to Severe Congenital Sensorineural Hearing Loss
• Early Age of Onset
• Immunoreactive Neuronal Alpha Synuclein and Glial Inclusions
• Diffuse Lewy Body Pathology
• Mutation in the Lamin AC Gene
• Kyphoscoliosis May Be Present
• Age at Onset: 28-42 Years
• Mutation in the DSPP Gene
• Progressive High Frequency Hearing Loss
• Asymmetric Cranial Vault
• Proboscis-Like Nares
• Midline Nasal Appendage
• Punctate, Yellow-White Sub-RPE Lesions and Subnormal Focal ERG
• Retinopathy May Resemble Retinitis Pigmentosa
• Punctate Yellow-White Sub-Retinal Pigment Epithelium Lesions
• Night Blindness Beginning in the 6th Decade
• Cutis Verticis Gyrata
• Onset at Age 6-10 Years
• Diffuse Hyporeflexia
• Pyramidal Tract Involvement
• Brisk Knee Reflex (Early-On)
• Extensor Plantar Responses (Early On)
• High-Stepping Gait
• Seizures Easily Controlled by Medications
• Dyskinesia in Homozygotes Reported in One Case
• Average Onset 6 Months
• Particulate Debris in Vitreous
• White Painless Eye
• Symptoms Often Improve Gradually with Age
• Type 2 Fiber Atrophy (Muscle Biopsy)
• Slow Recovery
• Miniature Endplate Potentials Decreased
• Generalized Hypotonia due to Neuromuscular Junction Defect
• Elevated Bilirubin (Bilirubinemia)
• Elevated Plasma Galactose (Galactosemia)
• Plasma Methionine Elevated - Methioninemia
• Citrulline Elevated (Citrullinemia)
• Allelic Disorder to Autosomal Recessive Inclusion Body Myopathy Type 2
• Wheelchair Bound, in Average 12 Years after Onset
• Mutation in the GNE Gene
• Inflammatory Cells Absent
• Congophilic Amyloid Material
• Deposits Immunoreactive to Beta-Amyloid Protein
• Tubulofilamentous Nuclear or Cytoplasmic Inclusions
• Rimmed Vacuoles (Biopsy)
• Quadriceps Muscle Spared
• Tibialis Anterior Muscle Affected
• Hamstring Muscle Affected
• Fishy Body Odor
• Caused by Mutation in the Dimethylglycine Dehydrogenase Gene
• Dimethylglycine Dehydrogenase Deficiency
• Urine N,N-Dimethylglycine Elevated
• N,N-Dimethylglycine Increased
• Mutation in the AMT Gene
• Mutation in the Glycine Dehydrogenase Gene
• CSF/Plasma Glycine Ratio Elevated
• Hepatic Glycine Cleavage Defect
• Expressive Speech Deficit
• Burst Suppression Pattern on Neonatal EEG
• Hyporeflexia to Hyperreflexia
• Absent Corpus Callosum
• Mutation in the PTEN-Induced Putative Kinase 1 Gene
• Dementia (5%)
• Autonomic Instability
• Sleep Benefit
• Postural Instability (63%)
• Dystonia at Onset
• Asymmetry at Onset
• High Frequency in the French Canadian Population
• Caused by Mutations in the Senataxin Gene (SETX)
• Absence of Sensory Action Potentials
• Distal Vibration Sensation Impaired
• Progressive Limb Ataxia
• Dermatitis Acidemica
• Carnitine Decreased
• 3-Methylcitric Acid Elevated
• 3-Hydroxypropionic Acid Elevated
• Propionate Elevated
• Trunk Hypotonia
• Urine Oligosaccharides Abnormal
• Glucosidase I Deficiency in Liver and Fibroblasts
• Long Lashes
• Prominent Occiput
• Wet, Gurgling, Hoarse Voice
• Hypophonic Breathy Voice
• Vocal Cord Weakness
• Onset of Weakness in Hands and Feet
• Earlier Onset Associated with Increased Severity
• Sloping Shoulders due to Muscle Atrophy
• Intercostal Muscle Involvement
• Manual Dexterity Impaired
• Wasting of Hand Muscles is Often an Early Symptom
• Mean Age of Onset 22 Years
• Percussion-Induced Rapid Rolling Muscle Contractions
• Muscle Activity is Electrically Silent on EMG
• Mental Development Worsens after Onset of Seizures
• 20-30 Degree Extension Deficit of Knees and Elbows
• Narrowing of the Frontal Part of the Skull