38701 to 38800 most common queries

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

• EMG Shows Neurogenic Abnormalities
• Late Diaphragmatic Involvement
• Secondary Involvement of Proximal and Trunk Muscles
• Primarily Affects Distal Lower Limbs
• Early and Severe Foot Extensor Muscle Involvement
• Partial Thromboplastin Time Prolonged
• Rough Endoplasmic Reticulum Dilated
• Abnormal Columnization of Chondrocytes
• Slanting Acetabular Roofs
• Severely Disproportionate Short Stature
• Psychiatric Symptoms May Be the Presenting Sign
• Median Age at Onset 23 Years
• TBP and 1C2-Immunoreactive Neuronal Inclusions
• Axial Rigidity
• Age of Onset: 36-55 Years (Mean Is 47 Years)
• Clonus of Ankle or Knee
• Most Common Mutation Is Leu276Ile
• Alpha Dystroglycan Expression Variably Decreased
• Mildly Decreased Laminin Alpha 2 Expression
• Muscle MRI Shows Fatty Infiltration
• Often Refractory to Medical Therapy
• May Be Induced by Fever or Hot Bath
• Psychomotor Delay after Second Year
• Generalized Clonic or Tonic-Clonic Seizures
• Allelic Disorder to Juvenile Primary Lateral Sclerosis
• Allelic to Amyotrophic Lateral Sclerosis Type 2
• Most Patients Become Wheelchair-Bound
• Some Patients Never Achieve Walking or Running
• Onset Within first 2 Years of Life
• Caused by Mutation in the Alsin Gene (ALS2)
• Ocular Gaze Palsies (Onset in Second Decade)
• Normal Cognition and Intellectual Function
• Early Involvement of the Corticospinal Pathways
• Spastic Tetraplegia (Onset in Second Decade)
• Iron Deposition in Pallidal Nuclei
• Complicated and Pure Forms
• Caused by Mutation in the Caspase 8 Gene
• Cellular Caspase-8 Decreased
• Defective Natural Killer Cell (NK) Activation
• Defective B-Cell Activation
• No Response to Pneumococcal Vaccination
• Mucocutaneous Herpes Simplex Infection
• Recurrent Sinopulmonary Infections
• Onset of Scoliosis at Age 2 Years
• Onset of Gaze Palsy at Birth
• Severe Progressive Thoracolumbar Scoliosis
• Heterozygous Mutation in 5-7% of the Japanese Population
• ApoA-II Levels in Homozygotes Normal
• ApoA-I in Homozygotes Elevated
• HDL in Heterozygotes Mildly Elevated
• HDL Elevated in Homozygotes
• Gastrointestinal Anomalies Are Not Always Present
• Renal Anomalies Are Not Always Present
• Duane Anomaly Is not Always Present
• Mutation in the SALL4 Gene
• Hypoplastic Pectoral Muscle
• Thenar Hypoplasia
• Aplasia of Metacarpal Bones
• Highly Variable Radial Ray Abnormalities
• Optic Disc Dysplasia
• Convergence Impaired
• Palpebral Fissure Narrowing on Adduction
• Ocular Adduction Impaired
• Duane Anomaly
• Slit-Like Openings of the Exterior Auditory Meatus
• Gastrointestinal Anomalies
• Abnormally Placed Kidney
• Mutations in the FLJ90140 Gene
• Femoral Head Ossification Delayed
• Thick Femoral Neck
• Short Ischia
• Lacy Iliac Crest
• Disproportionate Short Stature - Short Trunk
• Small Scapula
• Short Barrel-Shaped Chest
• 3-Beta-Hydroxysteroid-Delta-5-Desaturase Decreased
• 7-Dehydrocholesterol Absent
• Lathosterol Elevated
• Thick Vermilion Border of Upper Lip
• Adult Onset Has Been Reported
• Surgical Intervention Is Not Always Curative
• Type IIA: Usually Earlier Onset, More Severe Phenotype
• Onset Usually in Infancy or Early Childhood
• Mutations in the Hamartin Gene
• Blurring of the Gray White Junction
• Focal Thickening of the Cortex in Type IIB
• Focal White Matter Lesions (in Type 2B)
• Diffuse Fibrillar Astrocytosis in Type 2B
• Balloon Cells
• Multifocal Areas of Laminar Dysmorphic Neurons in Type 2a
• Absence of Balloon Cells (in Type 2a)
• Mental Retardation in Type 2A
• MRI May Be Normal Especially in Type 2b
• Disorganized Cortical Architecture
• Focal Neurologic Deficits (i.e. Hemiparesis)
• Seizures Occur Multiple Times Per Day
• Severe Drug-Resistant Intractable Seizures
• Slowly Progressive Cerebellar Ataxia
• Clinical Variation
• Mutation in the CLCNB Gene