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NEUROPATHY, HEREDITARY SENSORY, TYPE IE(HSN1E)

MedGen UID:
481515
Concept ID:
C3279885
Disease or Syndrome
Synonyms: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy; HSN IE; HSN1E; NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: DNMT1
Cytogenetic location: 19p13.2
OMIM®: 614116

Definition

Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). Approximately 75% of affected individuals have LDS type I with craniofacial manifestations (widely spaced eyes, bifid uvula/cleft palate, craniosynostosis); approximately 25% have LDS type II with systemic manifestations of LDSI but minimal or absent craniofacial features. LDSI and LDSII form a clinical continuum. The natural history of LDS is characterized by aggressive arterial aneurysms (mean age at death 26.1 years) and a high incidence of pregnancy-related complications, including death and uterine rupture. [from GeneReviews]

Additional description

From OMIM
Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011). For a discussion of genetic heterogeneity of HSN, see HSAN1A (162400).  http://www.omim.org/entry/614116

Clinical features

Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Irritability
MedGen UID:
5898
Concept ID:
C0022107
Finding
Abnormal or excessive excitability with easily triggered anger, annoyance, or impatience.
Hyporeflexia
MedGen UID:
101804
Concept ID:
C0151888
Finding
Apathy
MedGen UID:
612589
Concept ID:
C0436596
Finding
Memory impairment
MedGen UID:
368424
Concept ID:
C1963167
Finding
Somnolence
MedGen UID:
417941
Concept ID:
C2830004
Finding
A sleep disorder characterized by excessive sleepiness and drowsiness.
Dementia
MedGen UID:
504574
Concept ID:
CN000683
Finding
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Sensory neuropathy
MedGen UID:
504589
Concept ID:
CN000717
Finding
Peripheral neuropathy affecting the sensory nerves.
Cerebral atrophy
MedGen UID:
505074
Concept ID:
CN001862
Finding
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Decreased number of peripheral myelinated nerve fibers
MedGen UID:
505527
Concept ID:
CN003050
Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Impulsivity
MedGen UID:
506520
Concept ID:
CN117601
Finding
Osteomyelitis
MedGen UID:
505345
Concept ID:
CN002499
Finding
An infection of bone.

Recent clinical studies

Diagnosis

Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. [Epub ahead of print] PMID: 24727570

Clinical prediction guides

Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. [Epub ahead of print] PMID: 24727570

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