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40601 to 40700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Bilateral Postaxial Oligodactyly or Oligosyndactyly