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Broad Flat Bridge Decreased Amplitudes in Electroretinography Incomplete Penetrance of Optic Atrophy Later Onset of Optic Atrophy Early Onset of Peripheral Neuropathy Mutations in the Mitofusin 2 Gene Scoliosis in Severe Cases Cogwheel Ocular Pursuit Recovery of Visual Acuity in 60% of Patients Axonal Degeneration and Regeneration (Nerve Biopsy) Weakness during Pregnancy in Affected Females Onset in First to Third Decade Dysplastic Hips Dysplastic Skull Base Caused by Mutation in the Plakoglobin Gene Episodes of Ventricular Tachycardia Dense Rough and Bristly Hair Thick Short Pedicles Scalp Hair Quality Improves during Pregnancy Variable Heat Tolerance Flaked, Cracked, Missing Cuticular Scales Thin Slow-Growing Scalp Hair Hypoplasia of Sweat Glands Hypoplastic Pilosebaceous Units Normal Sweating Capacity Flexural Acanthosis Nigricans Cranial Hyperostosis Hypodontia (Secondary Teeth) Multiple Natal Teeth Thin, Sparse Eyelashes Sparse Eyebrows Familial Form Death in Fourth to Fifth Decade Mean Age of Onset 34 Months Mutation in the Myotubularin-Related Protein 2 Gene Irregular Loops and Focal Folding of Myelin Sheaths Motor Nerve Conduction Velocity Severely Decreased Mutation in the CDH23 Gene No Retinitis Pigmentosa Autosomal Dominant and Autosomal Recessive Forms Caused by Mutation in the Desmin Gene Biopsy Shows Degenerative Changes Consistent with Myopathy Affected Muscles Show Atrophy Short Anagen Phase of Hair Cycle Narrow Hair Shaft Cuticular Scale Absent Borderline Microcephaly (3rd Percentile) First Described in Gypsy Group from Bulgaria Deafness (often in Third Decade) 'Onion Bulbs' on Nerve Biopsy Severely Reduced Nerve Conduction Velocities Death Within Several Months if Untreated Presents at 2 to 3 Months of Age Caused by Mutations in the Recombinase Activating Gene 2 Mutations in the RAG1 Gene Recurrent Acute Pneumonia Loss of or Marked Reduction of VDJ Recombination Activity Peripheral Blood T Cells Absent Peripheral Blood B Cells Absent Inability to Reject Allogenic Cells Recurrent Opportunistic Infections Fluoxetine Therapy is Effective Quinidine Therapy Is Effective Autosomal Dominant Inheritance Is More Common Poor Response to Acetylcholinesterase Inhibitors Progressive Disorder due to Secondary Myopathy Exacerbation of Symptoms during or after Pregnancy EMG Shows Decremental CMAP Response to Repetitive Nerve Stimulation Chronic Fatigable Muscles Atrophy of Affected Muscles Especially Intrinsic Hand Muscles Finger Extensor Muscle Weakness Scapular Muscle Weakness Allelic to Distal Spinal Muscular Atrophy Type 5 but Distinguished by More Severe Distal Sensory Involvement Mean Age of Onset: 18 Years Caused by Mutation in the Glycyl-tRNA-Synthetase Gene Normal Motor Nerve Conduction Velocities Cold-Induced Hand Cramps First Dorsal Interossei Muscle Atrophy Upper Limb Weakness and Atrophy Normal Lacrimal Puncta Severe Hypolacrimation or Alacrima Mutation in the Cadherin 3 Gene Fusiform Beading of Hair Shaft Normal Fingernails Progressive Juvenile Macular Dystrophy Survivors Develop Dysautonomia-Like Symptoms Survival Past Infancy Is Rare Death in Infancy Due to Hyperthermia or Apnea Mutations in the LIFR Gene Blotching Pigmentation of the Skin Prominent Joints (in Older Children) Camptodactyly with Ulnar Deviation Undertubulation of the Diaphyses Striation of the Metaphyses Radiolucent Metaphyses Have Abnormal Trabecular Pattern Short, Thick Long Bones Congenital Bowing of the Long Bones Relatively Small Ilia Broad Ischial Bones Broad Pubic Bones