NARY is a -: (A) Lipid storage disorder, (B) Glycogen storage disorder, (C) Mitochondrial disorder, (D) Lysosomal storage disorder
Answer is C. Ans is 'c' i.e., Mitochondria! disorder Clinical Syndromes of Mitochondrial Diseases Primary Features Chronic progressive external o External ophthalmoplegia ophthalmoplegia (CPEO) o Bilateral ptosis o PEO onset before age 20 years o Pigmentary retinopathy o One of the following CSF protein greater than I g/L, cerebellar ataxia, hea block o Sideroblastic anemia of childhood o Panytopenia o Exocrine pancreatic failure o Hypotonia in the first year of life o Feeding and respiratory difficulties o Subacute relapsing encephalopathy o Cerebellar and brain-stem signs o Infantile onset o Late-childhood or adult-onset peripheral neuropathy o Ataxia o Pigmentary retinopathy o Stroke-like episodes before age 40 years o Seizures and/or dementia o Ragged-red fibers and/or lactic acidosis o Myoclonus o Seizures o Cerebellar ataxia o Myopathy o Subacute painless bilateral visual failure o Males: females-- 4:1 o Median age of onset 24 years Bilateral deafness Myopathy Dysphagia Diabetes mellitus Hypoparathyroidism Dementia Renal tubular defects Fatal form may be associated with a cardiomyopathy and/or the Toni-Fanconi-Debre syndrome Basal ganglia lucencies Maternal history of neurologic disease of Leigh syndroms Basal ganglia lucencies Abnormal electroretinogram Sensorimotor neuropathy 0 Diabetes mellitus 0 Cardiomyopathy (initially hyperophic; later dilated) 0 Bilateral deafness 0 Pigmentary retinopathy 0 Cerebellar ataxia Dementia Optic atrophy Bilateral deafness Peripheral neuropathy Spasticity Multiple lipomata Dystonia Cardiac pre-excitation syndromes