34601 to 34700 most common queries

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

• Severe Phenotype
• Onset in First Hours to Days of Life
• Mutation in the SLC25A22 Gene
• Evolution to Severe Encephalopathy
• Intractable Myoclonic Seizures
• Mean Age at Onset Is 33 Years (Range: 20-60)
• Vertical Visual Pursuit Impaired
• Red-Blind Color Blindness
• Abnormal Smooth Pursuit
• Dysmetric Eye Saccades
• Onset in Late Childhood to Early Adulthood
• Mutation in the FGF14 Gene
• Mild Sensory Axonal Neuropathy
• Poor Cognition
• Tremor Exacerbated by Stress and Exercise
• Tremor - Small Amplitude High Frequency - Restricted to the Hands
• Mild Joint Contractures
• Difficulty Walking, Running, Climbing Stairs
• Severe Disorder
• Usually Begins in Feet and Legs
• Nerve Biopsy Shows Decreased Number of Myelinated Fibers
• Demyelination and Remyelination (Nerve Biopsy)
• Motor Nerve Conduction Velocity Decreased (<38 m/s)
• Upper Limb Involvement May Occur Later
• Onset of Symptoms in Early Childhood
• Mildly Flattened Distal Femoral Epiphyses
• Patella Normal
• Marked Deformity of or Absent Proximal Femoral Epiphyses
• Limited Hip Rotation
• Mild Irregularity of Vertebral Bodies
• Small Irregular Patellae
• Small Secondary Ossification Centers - Miniepiphyses
• Wide Deformed Femoral Neck
• Abnormal Proximal Femora with Miniepiphyses
• Normal Vertebrae
• Generalized Joint Laxity
• Mild Upper Limb Involvement
• Loss of Independent Ambulation 30 Years after Onset
• Inability to Raise Eyes above Horizontal Midline
• Restrictive Partial Ophthalmoplegia
• Congenital Bilateral Ptosis
• Unilateral (Right Eye) Involvement
• Bilateral Postaxial Oligodactyly or Oligosyndactyly
• Hallucal Symphalangism
• Aplasia or Hypoplasia of Halluces
• Fifth Finger Symphalangism
• Aplasia or Hypoplasia of Middle Phalanges of 2nd and 5th Fingers
• Complete Syndactyly/Synostosis of 3rd and 4th Fingers
• Bilateral Transverse Palmar Creases
• Four Fingers on Each Hand
• Profound Congenital Hearing Loss (250-8,000 Hz)
• Brachydactyly of the Foot
• Small Broad Feet
• Carpal Bone Fusion
• Metacarpal Hypoplasia
• Proximal Phalanges Absent
• Hypoplastic Phalanges (Fingers 2-5)
• Severe Brachydactyly
• Hypoplasia of the Femoral Neck
• Patients May Have Seizures Only, Dyskinesia Only, or Both
• Interictal EEG Shows 3-4 Hz General Spike-and-Slow-Waves
• Serum Creatine Kinase May Be Normal
• Immunoreactivity for Z-Disk Proteins
• Z-Disk Degeneration
• Isolated Necrotic Fibers
• Internal Nuclei
• Congophilic Deposits
• Myofibrillar Changes (Muscle Biopsy)
• EMG May Show Neurogenic Changes
• Generally Static Disease Course
• Most Patients Remain Ambulatory in Adulthood
• Congenital Onset
• Contractures May Develop Later in Life
• Joint Laxity Mildly Increased
• Muscle Biopsy is Immunopositive for Merosin
• Poor Muscle Build
• Early Lethality
• Biopsy Shows Cardiomyocytes with PAS-Positive Vacuoles
• Alpha Glucosidase Activity Normal (GAA)
• Normal LAMP2 Staining
• Lysosomal Glycogen Increased
• Neonatal Hypotonia - Muscle Biopsy Shows PAS-Positive Vacuoles
• Adult Onset - 37 to 57 Years
• Mutations in the FLNC Gene
• Nemaline Rod Formation
• Abnormal Aggregates of Desmin and Filamin C
• Necrotic Fibers
• Fibre Splitting
• Abnormal Muscle Fibers with Amorphous Granular or Hyaline Deposits
• Muscle Biopsy Shows Myofibrillar Myopathy
• Distal Muscles Possibly Affected
• Peripheral Nerve Involvement May Occur
• Onset in First Months of Life
• Mutations in the Synaptosomal Associated Protein 29 kD Gene
• Abnormal Distribution of Glucosylceramides
• Abnormal Lamellar Granule Maturation
• MRI Shows Defects of the Corpus Callosum
• Major Developmental Milestones Are Not Attained
• Severe to Profound Deafness
• Allelic Disorder to Usher Syndrome Type 1F