Biomaterial Database

Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. 1996

R M Chalmers, and A C Bird, and A E Harding

University Department of Clinical Neurology (Neurogenetics Section), Institute of Neurology, London, UK.

The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.

UI	MeSH Term	Description	Entries
D009896	Optic Atrophy	Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.	Atrophy, Optic
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
D005190	Family	A social group consisting of parents or parent substitutes and children.	Family Life Cycles,Family Members,Family Life Cycle,Family Research,Filiation,Kinship Networks,Relatives,Families,Family Member,Kinship Network,Life Cycle, Family,Life Cycles, Family,Network, Kinship,Networks, Kinship,Research, Family
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D015417	Hereditary Sensory and Motor Neuropathy	A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)	Dejerine-Sottas Disease,HMSN,HMSN Type III,HMSN Type VII,Hereditary Motor and Sensory Neuropathies,Hereditary, Type III, Motor and Sensory Neuropathy,Hereditary, Type VII, Motor and Sensory Neuropathy,Neuropathies, Hereditary Motor and Sensory,CMT4f,Charcot-Marie-Tooth Disease, Demyelinating, Type 4f,Charcot-Marie-Tooth Disease, Type 3,Dejerine-Sottas Neuropathy,Dejerine-Sottas Syndrome,HMSN3,Herditary Sensory and Motor Neuropathy,Hereditary Motor and Sensory Neuropathy,Hereditary Motor and Sensory Neuropathy 3,Hereditary Motor and Sensory Neuropathy Type III,Hypertrophic Neuropathy of Dejerine-Sottas,Charcot Marie Tooth Disease, Type 3,Dejerine Sottas Disease,Dejerine Sottas Neuropathy,Dejerine Sottas Syndrome,Dejerine-Sottas Hypertrophic Neuropathy,Disease, Dejerine-Sottas,HMSN Type IIIs,HMSN Type VIIs,Hypertrophic Neuropathy of Dejerine Sottas,Neuropathy, Dejerine-Sottas,Syndrome, Dejerine-Sottas,Type VII, HMSN