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Acute Episodes of Neuropathic Symptoms Symptoms Worsen with Fatigue and Exercise Mutation in the GTP Cyclohydrolase I Gene Cerebellar Signs May Develop Extrapyramidal Signs May Develop Hyperkeratosis Triggered by Chronic Mechanical Irritation Erythema due to Sudden Temperature Change or Emotional Stress Caused by Mutation in the Beta-4 Gap Junction Protein Gene Patchy Palmoplantar Keratosis (>50%) Mutation in the FLCN Gene Prominent Mandible Neurologic Abnormalities or Dysmorphic Features Not in All Cases Diagnosis within the First 3 Months of Life Limb Joint Contracture Absence of Pancreatic Autoantibodies Thick Ears Diabetic Peripheral Neuropathy in Long-Standing Cases Epileptiform Activity Diffuse Hypotonia Renal Tubular Cell Atrophy with Corticomedullary Cysts Interstitial Cell Infiltrate Poor Pupillary Reflexes Secondary Nocturnal Enuresis Mutation in the Nephrocystin 4 Gene Diminished Amplitude on ERG Neurofibrillary MAPT-Positive Tangles Mild Facial Weakness Range of Onset 11 to 50 Years MRI Shows Increased Connective Tissue and Fat Skeletal Muscle Biopsy Shows Dystrophic Changes Biceps Brachii Atrophy Prominent Involvement of the Biceps Brachii Muscles Prominent Involvement of the Quadriceps Femoris Muscles Onset Birth to Early Infancy Hyperkeratosis with Increased Melanin in Epidermis Rickets and Premature Primary Tooth Loss Occur in Childhood No Skeletal Abnormalities in Odontohypophosphatasia Metatarsal Stress Fracture (Hypophosphatasia Only) Calcium Pyrophosphate Arthropathy (Hypophosphatasia Only) Long Bone Pseudofractures (Hypophosphatasia Only) Rickets - Only Hypophosphatasia Osteomalacia (Hypophosphatasia Only) Pathologic Fractures - Only Hypophosphatasia Alveolar Bone Decreased Increased Error Rate in Memory-Guided Saccades (40%) Antisaccade Error Rate Increased (50%) Pursuit Initiation and Maintenance Impaired Allelic Disorder to the IVIC Syndrome No Tau Pathology Ictal EEG Shows Focal Onset Often Posterior Region of Brain Staring Episodes during Seizures Rigidity during Seizures Seizures Often Begin Focally with Head and Eye Deviation Seizures Occur in Clusters Over 1 or Several Days Possibly Secondary Generalized Tonic-Clonic Seizures Capillary Hemangioma (Forehead) High Narrow Iliac Wings Hypoplastic Permanent Teeth Dental Caries (Secondary Teeth) Hyperpigmentation (Forehead) Moderate Hypertension Secondary to Renal Disease Mild Bleeding Episodes Severe Thrombocytopenia (30-60 * 10^9/l) No Cataract Moderate Hypertension Absent Neutrophil Inclusions Asymptomatic Bleeding Tendencies Mean Platelet Volume 12.6 fl Platelets Decreased to Low-Normal (89-290*10^9/l) Prolonged Menstrual Periods EMG Shows Polyphasic Continuous Motor Unit Discharges Creatine Kinase during Episodes Increased Leg Stiffness Psammomatous Melanotic Schwannomas Calcified Testicular Sertoli Cell Tumor Pigmented Micronodular Adrenal Dysplasia Multiple Giant Cell Granulomas Autosomal Recessive Omodysplasia Has Also Been Described Short, Curved Humeri Mutation in the AP3B1 Gene Pulmonary Fibrosis due to Recurrent Infections Tyrosinase-Positive Cutaneous Albinism Absence of Platelet Dense Bodies Numbers of Natural Killer Cells Decreased Disorganized Lysosomal Compartments in Neutrophils Dental Decay due to Recurrent Bacterial Periodontitis Tyrosinase-Positive Ocular Albinism Protruding Midface Mild Motor Retardation Hypoplastic Nails (5th Toes) Camptodactyly (4th and 5th Fingers) Rudimentary Ear Creatine Kinase May Be Increased Continuous Myotonic Activity in Myotonia Permanens (EMG) Potassium-Sensitive Myotonia (Possibly Responsive to Acetazolamide) See also Distal HMN2A Allelic Disorder to Charcot Marie Tooth Disease Type 2F Mutation in the 27 kD Heat Shock Protein 1 Gene Paralysis and Atrophy of Distal Lower Limb Muscles Dysarthria, Dysphonia, or Cough Precede Onset of Ataxia