41201 to 41300 most common queries

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

• Progressive Ptosis
• Mean Age at Onset 32 Years
• Caused by Mutations in the Ataxin 7 Gene (SCA7)
• Decreased Mobility 3rd - 5th Fingers
• Ulnar-Deviated Club Hands
• Absent Radial Heads
• Aplasia of Lateral Humeral Condyle
• Absent Coronoid Process
• Shallow Glenoid Fossa
• Nerve Conduction Velocities Normal or Mildly Decreased
• See Also Optic Atrophy with Deafness - an Allelic Disorder
• Bimodal Onset in Early Childhood
• Caused by Mutation in the OPA1 Gene
• Pattern Visual Evoked Potentials Show Reduced Amplitude
• Fractures Often Heal without Deformity
• Fracture Frequency Constant through Childhood, Decreases after Puberty
• Onset of Fracture Usually when Child Begins to Walk
• Mild Joint Hypermobility
• Occasional Femoral Bowing
• Height Often Shorter than Unaffected Family Members
• Normal to near Normal Stature
• Detection in Second Trimester of Pregnancy (Ultrasound)
• Gonadal and Somatic Mosaicism Reported in Parent
• Rarely Survival for Longer than One Year
• Perinatal Lethal
• Telescoped Femur
• Broad Crumpled Long Bones
• Flattened Acetabulae and Iliac Wings
• Frog Leg Position: Flexion and Abduction of Hips
• Absent Calvarial Mineralization
• Often Identified in Neonatal Period
• Femoral Bowing Present at Birth - Straightening with time
• Biconcave, Flattened Vertebrae
• Mild-Moderate Skeletal Deformity
• Normal Greyish Sclerae
• Short Stature (Often <5th Percentile)
• Diaphyseal Bowing (Radius, Ulna, Tibia, Fibula)
• Cemento Osseous Lesions (Maxilla and Mandible)
• Sclerotic Mastoids (31%)
• Sclerotic Cranial Base
• Increased Trabecular Thickness Seen on Iliac Bone Biopsy
• Broad Medial and Lateral Clavicles
• Long Straight Clavicles
• Transitional Facial Palsy
• 20-40% of Patients Are Asymptomatic
• Caused by Mutation in the Chloride Channel 7 Gene
• Endobones
• Pronounced Skull Base Sclerosis
• Facial Palsy due to Cranial Nerve VII Compression
• Ankylosis of Primary Molars
• Caused by Mutations in the Keratin 17 Gene
• Mutations in the Keratin 6B Gene
• Dry Sparse Scalp Hair
• Subungual Keratosis
• Folliculitis - Back, Axilla, Pubic Region
• No Oral Leukoplakia
• Mutation in the Valosin Containing Protein Gene
• Inclusion Body Myopathy
• Pelvic Girdle Weakness and Atrophy
• Limb Weakness and Atrophy
• Shoulder Weakness and Atrophy
• Frontal and Temporal Cortical Atrophy (MRI)
• Inability to Raise One or Both Eyes above Midline
• Eyes Fixed in Hypotrophic Eye Position
• Unilateral or Bilateral, Non-Progressive, Restrictive Ophthalmoplegia
• Ptosis (Unilateral, Bilateral or Absent)
• See Also Lethal Neonatal and Adult Forms
• Precipitated by Febrile Illness and Fasting
• Long Chain Acylcarnitine Increased
• Plasma and Tissue Total and Free Carnitine Reduced
• Palmitate Oxidation Decreased
• Decreased Levels of CPT2 Protein
• Carnitine Palmitoyltransferase II Activity Decreased
• Onset of Hearing Loss in Second Decade
• Epilepsy with Generalized Seizures on Awakening
• Benign Neonatal Familial Convulsions
• Comprises Several Subtypes
• Susceptibility Conferred by 9-SNP Haplotype in Malic Enzyme 2
• 3-4 Hz Spike and Multispike
• Generalized Bilateral Synchronous Symmetrical Discharge
• Generalized Recurrent Seizures
• Age at Onset of Mild Phenotype: 11-18 Months
• Severe Phenotype Onset Neonate
• Two Different Phenotypes Exist - Severe and Mild
• Urine 2-Ketoglutarate Elevated
• Urine L-2-Hydroxyglutaric Acid Increased
• Urine Plasma and Cerebrospinal Fluid D-2-Hydroxyglutaric Acid Elevated
• Enlarged Lateral Ventricles (Occipital > Frontal)
• Delayed Gyration
• Subependymal Cyst
• Neonatal or Early-Infantile-Onset Encephalopathy
• Distal Myopathy with Rimmed Vacuoles
• Severe Incapacitation in 10-20 Years
• Possible Proximal Muscle Weakness Later in the Disease
• See for General Information on Alzheimer Disease
• Accounts for <2% of Patients with Alzheimer's Disease
• Early Onset between 35-60 Years
• Mutation in the Presenilin 2 Gene
• Severe Amyloid Angiopathy
• Neurofibrillary Tangles and Neuritic Senile Plaques - Rare