Biomaterial Database

Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. 1994

P A Calabresi, and G Silvestri, and S DiMauro, and R C Griggs

Department of Neurology, University of Rochester Medical Center, New York.

A 66-year-old woman with hereditary deafness and multiple symmetric lipomas presented with ataxia, slight myopathy, and neuropathy. Molecular genetic analysis of mitochondrial DNA revealed the adenine to guanine transition at position 8344 in the tRNA gene for lysine that has been associated with the myoclonic epilepsy and ragged red fiber (MERRF) syndrome. The deafness was transmitted by the patient's father and may have been an unrelated autosomal defect rather than a paternally transmitted mitochondrial point mutation.

UI	MeSH Term	Description	Entries
D008067	Lipoma	A benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule.	Fatty Tumor,Hibernoma,Lipoma, Pleomorphic,Atypical Lipoma,Lipomata,Lipomatosis, Multiple,Atypical Lipomas,Fatty Tumors,Hibernomas,Lipoma, Atypical,Lipomas,Lipomas, Atypical,Lipomas, Pleomorphic,Lipomatas,Lipomatoses, Multiple,Multiple Lipomatoses,Multiple Lipomatosis,Pleomorphic Lipoma,Pleomorphic Lipomas,Tumor, Fatty,Tumors, Fatty
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012148	Restless Legs Syndrome	A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.	Restless Leg Syndrome,Restless Legs,Willis Ekbom Disease,Willis Ekbom Syndrome,Willis-Ekbom Disease,Willis-Ekbom Syndrome,Wittmaack Ekbom Syndrome,Wittmaack-Ekbom Syndrome,Disease, Willis Ekbom,Disease, Willis-Ekbom,Syndrome, Restless Leg,Syndrome, Willis Ekbom,Syndrome, Willis-Ekbom,Syndrome, Wittmaack Ekbom,Syndrome, Wittmaack-Ekbom
D004272	DNA, Mitochondrial	Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.	Mitochondrial DNA,mtDNA
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368	Aged	A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available.	Elderly
D001259	Ataxia	Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.	Coordination Impairment,Dyssynergia,Incoordination,Ataxia, Appendicular,Ataxia, Limb,Ataxia, Motor,Ataxia, Sensory,Ataxia, Truncal,Ataxy,Dyscoordination,Lack of Coordination,Tremor, Rubral,Appendicular Ataxia,Appendicular Ataxias,Ataxias,Ataxias, Appendicular,Ataxias, Limb,Ataxias, Motor,Ataxias, Sensory,Ataxias, Truncal,Coordination Impairments,Coordination Lack,Impairment, Coordination,Impairments, Coordination,Incoordinations,Limb Ataxia,Limb Ataxias,Motor Ataxia,Motor Ataxias,Rubral Tremor,Rubral Tremors,Sensory Ataxia,Sensory Ataxias,Tremors, Rubral,Truncal Ataxia,Truncal Ataxias
D017243	MERRF Syndrome	A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)	Fukuhara Disease,Myoclonic Epilepsy with Ragged Red Fibers,Fukuhara Syndrome,MERRF,Myoclonic Epilepsy Associated with Ragged-Red Fibers,Myoclonic Epilepsy and Ragged Red Fibers,Myoclonic Epilepsy with Ragged-Red Fibers,Myoclonus with Epilepsy with Ragged Red Fibers,Myoencephalopathy Ragged-Red Fiber Disease,Myoclonic Epilepsy Associated with Ragged Red Fibers,Myoencephalopathy Ragged Red Fiber Disease,Syndrome, Fukuhara,Syndrome, MERRF
D017354	Point Mutation	A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.	Mutation, Point,Mutations, Point,Point Mutations