40601 to 40700 most common queries

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

• Type 1: Onset at 8-15 Months of Age after Normal Development
• Type 3: Intermediate Form
• Kanzaki Disease Type 2 Is Adult Onset
• Type 1 Is Infantile-Onset, Severe
• Alpha-N-Acetylgalactosaminidase Activity Decreased to <2%
• Decreased alpha-N-acetylgalactosamine Protein
• Lack of Lysosomal Inclusions in Visceral Organs
• 'Spheroid' Inclusions in Axons
• Atrophy of Cerebellum, Brain Stem, Cervical Spinal Cord
• No Voluntary Movement
• Rapid Regression
• Development after 8-15 Months Delayed
• Normal Early Development up to 8 to 15 Months of Age
• Thick Lips
• Flat Nasal Bridge
• Nasal Tip Enlarged
• Conjunctiva Shows Dilated Blood Vessels
• Allelic to Schindler Disease
• Mutation in the Alpha-N-Acetylgalactosaminidase Gene
• Telangiectasia on Lips and Oral Mucosa
• Diffuse Maculopapular Eruption
• Urine O-Linked Sialopeptides Increased
• Glycoamino Aciduria
• Alpha-N-Acetylgalactosaminidase Activity Decreased or Absent
• α-N-Acetylgalactosaminidase Protein Decreased or Absent
• Decreased Density of Myelinated Fibers and Axonal Degeneration
• Distal Sensory Loss (all Modalities)
• MRI May Show Atrophy of the Cerebrum
• Seizures Remit by Age 5 Years
• Onset at Age 3 Months to 5 Years
• Seizures Recur in 33% of Patients
• Seizures Usually Last 1 to 5 Minutes
• For Autosomal Recessive Forms See CMT2B1 and CMT2B2
• May Progress to Upper Limbs
• Caused by Mutation in the Mitofusin 2 Gene
• Decreased Number of Myelinated Fibers May Be Found
• Small 'Onion Bulbs' May Be Present
• Nerve Biopsy Shows Axonal Degeneration and Regeneration
• Axonal Atrophy On Nerve Biopsy
• Motor Nerve Conduction Velocity Normal or Mildly Decreased
• Increased Muscle Tone
• Predominant Loss of Pain and Temperature Sensation
• Saccadic Slow Pursuit
• Clumsiness in Childhood
• Sensorineural Hearing Loss Has Been Reported
• SLC25A4 Mutations Account for Approximately 4% of all PEO Cases
• Generalized Muscle Weakness
• Lactate Usually Normal
• Variable Clinical Severity
• Caused by Mutation in the Tropomyosin-3 Gene
• Both Type 1 and Type 2 Fiber Predominance Has Been Reported
• Nemaline Bodies in Type 1 Fibers
• Lower Leg Amyotrophy
• Delayed Motor Development due to Muscle Weakness
• Muscle Biopsy Shows Multiple Mitochondrial DNA Deletions
• 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
• Proximal Femoral Metaphyseal Irregularity
• Short Wide Femoral Neck
• 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
• Carpal Bones Absent