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Myopathy with Type 1 Fiber Atrophy on Muscle Biopsy Atrial Abnormalities on Electrocardiogram Tendency to Walk on Toes Usually Fatal in Infancy Severe Muscular Hypotonia No Cardiac Involvement No Muscle Fiber Necrosis Vacuolated Muscle Fibers Show Reduplication of the Basement Membrane Perisarcolemmal Calcium Deposition Increased Myotonic Discharges in the Absence of Clinical Myotonia (EMG) Some Patients Become Wheelchair-Bound Muscle Atrophy Later in Disease Course Asymptomatic Proteinuria or Hypercalciuria in Female Carriers Phenotype of Variable Severity Mutation in the Chloride Channel 5 Gene Low-Molecular-Weight Proteinuria Possible Autosomal Dominant and Autosomal Recessive Forms Upper Limbs May Be Affected Onset of Motor Disturbances in Childhood Lethal in Males Dry, Rough, Sparse Hair Milia of Upper Face and Ears in Infancy Abnormalities of the Toes (25%) Anomalous Anterior Teeth Bifid Tongue (30-45%) Lobulated Tongue (30 45%) Pseudocleft of the Upper Lip Median Cleft Lip Buccal Frenuli Hyperplastic Oral Frenuli Adult-Onset Polycystic Kidney (50%) Central Nervous System Malformations (40%) Two Types: Lethal Neonatal and Less Severe Late-Onset Hepatic Ornithine Transcarbamylase Deficiency Plasma Citrulline Low Melnick Needles Syndrome Is an Allelic Disorder Frontometaphyseal Dysplasia Is an Allelic Disorder Complete Manifestation in Males Intermediate Expression in Females Mutations in the FLNA Gene Short, Square Fingernails 'Tree Frog' Feet Anomalous Fifth Metatarsal Short Broad Halluces Short Third Fourth Fifth Metacarpals Short Square Nails Short Broad Distal Phalanges - Especially Thumbs Mild Lateral Femoral Bowing Small Iliac Crests Small Pedicles Dense Middle Ear Ossicles Steep Clivus Thick Frontal Bone Sphenoid Sinuses Absent Short Stature < 10th Percentile for Age Susceptibility to Neisseria Infections Increased Caused by Mutation in the PFC Gene Dysfunctional Alternative Complement Pathway Allelic to Spastic Paraplegia Type 2 Nystagmus May Disappear by Mid Childhood Absent Myelination of the Brain Progressive Pyramidal and Cerebellar Signs Rotary Head Movements - 'Rolling Tremor' A Subset of Patients May Have Normal Levels of Blood Lactate A Subset of Patients May Have Subtle Increases in Blood Lactate Chronic Lactic Acidosis Severe Lactic Acidosis A Subset of Patients Improve with Thiamine Facial Dysmorphism (35%) Two Main Phenotypes - Metabolic and Neurologic Activity of Pyruvate Decarboxylase Decreased Activity of the Pyruvate Dehydrogenase Complex Decreased Incresased Urinary Pyruvate Urine Lactate Increased Blood Alanine Increased Cerebrospinal Fluid Pyruvic Acid Increased Episodic Ptosis Oligospermia or Azoospermia Normal 46,XY Karyotype High FSH Secondary to Androgen Insensitivity Partial Deficiency of Cytoplasmic DHT Binding May Not Be Clinically Manifest until Middle Life Electroretinogram Shows a Reduced B Wave in Most Cases Progressive Loss of Vision Intraretinal Splitting De Novo Mutations Almost Exclusively on the Paternal X Chromosome Stage IV: Late Motor Deterioration, Ambulation Ceases Stage 3 - Pseudostationary Period Stage 2 - Rapid Developmental Regression T Wave Abnormality Hand Stereotypies Cortical Atrophy (Frontal Area) Reduction or Loss of Acquired Skills Slow Waking Background - Intermittent Rhythmical Slowing (3-5 Hz) - Epileptiform Discharges Normal Development until Age 6-18 Months Multiple Hair Whorls Abnormally Shaped Vertebrae Craniosynostosis - Lambdoid and Coronal Sutures High, Broad Nasal Root Small, Pointed Nose