Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status

Keyphrases

• Ataxia 100%
• Myoclonic 100%
• Distal Hereditary Motor Neuropathy (dHMN) 100%
• Epileptic Syndromes 100%
• Progressive External Ophthalmoplegia 100%
• Mitochondrial Cytopathy 100%
• Autosomal Recessive 50%
• Adult Patients 50%
• Early Death 50%
• Nervous System 50%
• Sensory Neuropathy 50%
• Early Disease 50%
• Ataxic 50%
• Myelinated Fibers 50%
• Additional Findings 50%
• Myopathy 50%
• Multisystem Involvement 50%
• Pedigree Data 50%
• CSF Lactate 50%
• Dorsal Column 50%
• Extraocular muscles 50%
• Epilepsia 50%
• Ragged-red Fibers 50%
• Progressive Ataxia 50%
• Spinocerebellar Tracts 50%
• Multi-system Degeneration 50%
• Skeletal muscle Biopsy 50%
• Myoclonic Status Epilepticus 50%
• Sural Nerve Biopsy 50%
• Autopsy Examination 50%

Neuroscience

• Ataxia 100%
• Status Epilepticus 100%
• Ophthalmoparesis 100%
• Neuropathy 100%
• Nervous System 50%
• Skeletal Muscle 50%
• Muscle Disorder 50%
• Autosomal Recessive Disorder 50%
• Sural Nerve 50%
• Spinocerebellar Tract 50%