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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 Bilateral Keratoconus 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) Radial Deviation of Fingers 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 Fibrillation Potentials (EMG) Progressive Proximal Muscle Weakness 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 Myopathic Changes (Muscle Biopsy) 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 Internal Nuclei Increased Abnormal Muscle Fibers with Amorphous Granular or Hyaline Deposits Muscle Biopsy Shows Myofibrillar Myopathy Distal Muscles Possibly Affected Lower Limbs More Affected than Upper Limbs 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 Roving Eye Movements (Infancy) Major Developmental Milestones Are Not Attained Severe to Profound Deafness Allelic to Usher Syndrome Type 1F Mutation in the PCDH15 Gene Congenital Optic Atrophy Spastic Paraplegia with Onset during First Year of Life Loss of Myelinated and Unmyelinated Fibers (Nerve Biopsy) Distal Hyporeflexia or Areflexia Distal Sensory and Motor Axonal Neuropathy Onset of Dysarthria in Third Decade of Life Loss of Independent Ambulation by Age 10 Years Bilateral Facial Weakness Onset by Age 2 Years Mutation in the TK2 Gene Skeletal Muscle Tissue Shows 14 to 45% Depletion of Mitochondrial DNA Age-Dependent Penetrance Associated with Myoclonic Epilepsy Associated with Idiopathic Generalized Epilepsy Occurs Usually at 5-15 Years of Age Type 4 EEG Response Generalized Spike-and-Slow-Waves Type 2 EEG Response Parietooccipital Spikes Followed by Biphasic Slow-Waves Response Is Occipital Spikes in Type 1 Abnormal Cortical EEG Discharges Triggered by Intermittent Light Wide Irregular Fontanels Rash, Edema and Arthralgia May Occur during Crisis Onset of Crises in Early Childhood Urine Mevalonic Acid Elevated Ubiquinone 10 Decreased Leukotriene E4 Elevated Cholesterol Low or Normal IgD Elevated Progressive Ataxia - Onset Second Year of Life Persistence of Fetal Fingerpads Eversion of Lateral Third of Lower Eyelid Crossed Fused Renal Ectopia Male to Female Ratio 21:8 Broad Bushy Eyebrows Hand Length Decreased