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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