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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