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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