MCID: WRD018
MIFTS: 23

Werdnig-Hoffman Disease malady

Summaries for Werdnig-Hoffman Disease

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44NINDS, 33MalaCards
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NINDS:44 Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.

MalaCards: Werdnig-Hoffman Disease, also known as hmn proximal type i, is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Werdnig-Hoffman Disease is MYOZ2 (myozenin 2). The compound tyrosine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and lung, and related mouse phenotype muscle.

Aliases & Classifications for Werdnig-Hoffman Disease

Sources:
61UMLS, 44NINDS
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Aliases & Descriptions:

werdnig-hoffman disease 44
hmn proximal type i 61


Related Diseases for Werdnig-Hoffman Disease

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Werdnig-Hoffman Disease:



Diseases related to werdnig-hoffman disease

Clinical Features for Werdnig-Hoffman Disease

Drugs & Therapeutics for Werdnig-Hoffman Disease

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Werdnig-Hoffman Disease

Anatomical Context for Werdnig-Hoffman Disease

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33MalaCards
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MalaCards organs/tissues related to Werdnig-Hoffman Disease:

33
Brain, Spinal cord, Lung, Fetal brain, Thalamus, Fetal lung

Animal Models for Werdnig-Hoffman Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Werdnig-Hoffman Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1SMN1, MYOZ2

Publications for Werdnig-Hoffman Disease

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51PubMed
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Articles related to Werdnig-Hoffman Disease:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Parental role in the Intensive Care Unit for children affected by Werdnig Hoffmann disease. (20440234)
2010
2
Pictorial essay of Werdnig-Hoffman disease. (19322128)
2009
3
Long-term survival in Werdnig-Hoffmann disease. (17449977)
2007
4
Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation. (15346918)
2004
5
Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis. (12646976)
2003
6
Werdnig-Hoffmann disease with congenital hypothyroidism. (14738578)
2003
7
Long-term ventilator support in patients with Werdnig-Hoffmann disease. (10986865)
2000
8
New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease. (10665977)
2000
9
Urodynamics in a patient with Werdnig-Hoffman disease. (11178590)
1999
10
Migrating atelectasis in Werdnig-Hoffmann disease: pulmonary manifestations in two cases of spinal muscular atrophy type 1. (10423316)
1999
11
A study of cell death in Werdnig Hoffmann disease brain. (9535127)
1998
12
Oral-facial-digital syndrome (OFDS) type I in a patient with Werdnig-Hoffman disease. (9522240)
1998
13
Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease. (9748045)
1998
14
Synaptophysin expression in the anterior horn of Werdnig-Hoffmann disease. (8815186)
1996
15
Pathological cases of the month. Type 1 spinal muscular atrophy (Werdnig-Hoffman disease). (8352229)
1993
16
Ubiquitin-positive inclusion in anterior horn cells in subgroups of motor neuron diseases: a comparative study of adult-onset amyotrophic lateral sclerosis, juvenile amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. (8387100)
1993
17
Controversy over Werdnig-Hoffmann disease and multiple system atrophy. (8293160)
1993
18
Epidemiological data on Werdnig-Hoffmann disease in Germany (West-ThA1ringen). (8478016)
1993
19
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (8515770)
1993
20
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. (1348092)
1992
21
Evolution of muscle specific proteins in Werdnig-Hoffman's disease. (1387678)
1992
22
Permanently locked-in syndrome in the neurologically impaired neonate: report of a case of Werdnig-Hoffmann disease. (1392039)
1992
23
Immunocytochemical and ultrastructural studies of Werdnig-Hoffmann disease. (1851364)
1991
24
Brain atrophy in Werdnig-Hoffmann disease. (1776391)
1991
25
An unusual neurologic problem: Werdnig-Hoffmann disease. (2249464)
1990
26
Proximal and distal motor nerve conduction velocities in Werdnig-Hoffmann disease. (2340034)
1990
27
Ubiquitin and phosphorylated neurofilament epitopes in ballooned neurons of the extraocular muscle nuclei in a case of Werdnig-Hoffmann disease. (1698008)
1990
28
A hungarian study on Werdnig-Hoffmann disease. (2614795)
1989
29
Chromatolytic neurons in Werdnig-Hoffmann disease contain phosphorylated neurofilaments. (3149123)
1988
30
Muscle fibre type differentiation and satellite cell population in Werdnig-Hoffmann disease. (3989581)
1985
31
Astrocytic proteins in the dorsal and ventral roots in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. (6502190)
1984
32
A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots. (6880628)
1983
33
Morphological and morphometric studies on the spinal cord lesion in Werdnig-Hoffmann disease. (7201252)
1982
34
Involvement of the Onuf nucleus in Werdnig-Hoffmann disease. (7201584)
1982
35
Preservation of the phrenic motoneurons in Werdnig-Hoffmann disease. (7271245)
1981
36
Vitamin E deficiency in Werdnig-Hoffmann disease. (7294734)
1981
37
Case study - Werdnig Hoffman disease. Master G.B.: the story of a remarkable child, his family, and community. (6934438)
1980
38
Animal model of human disease: Werdnig-Hoffmann disease (infantile spinal muscular atrophy). (7416238)
1980
39
Glial bundles of nerve roots in Werdnig-Hoffmann disease. (7406450)
1980
40
Spinal autonomic neurons in Werdnig-Hoffmann disease, mannosidosis, and Hurler's syndrome: distribution of autonomic neurons in the sacral spinal cord. (6783738)
1980
41
Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association. (671487)
1978
42
Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease. (654890)
1978
43
Werdnig-Hoffmann disease: proposal of a pathogenetic mechanism. (636837)
1978
44
Animal model of human disease. Infantile spinal muscular atrophy, Werdnig-Hoffman disease. Animal model: Hereditary neuronal abiotrophy in Swedish Lapland dogs. (1258980)
1976
45
Cerebellar hypoplasia in Werdnig-Hoffmann disease. (1158057)
1975
46
Werdnig-Hoffman's disease--infantile progressive muscular atrophy report of case. (1089112)
1975
47
Spinal muscular atrophy: foetal-like histopathological pattern in Werdnig-Hoffmann disease. (4529631)
1974
48
The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England. (4774536)
1973
49
Ultrastructure of muscle in Werdnig-Hoffmann disease. (5805762)
1969
50
Neurogenic muscular atrophy of infancy with prolonged survival--the variable course of Werdnig-Hoffmann disease. (5711032)
1968

Genetic Variations for Werdnig-Hoffman Disease

Expression for genes affiliated with Werdnig-Hoffman Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Werdnig-Hoffman Disease

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Pathways for genes affiliated with Werdnig-Hoffman Disease

Compounds for genes affiliated with Werdnig-Hoffman Disease

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45Novoseek
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Compounds related to Werdnig-Hoffman Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine459.1SMN1, MYOZ2

GO Terms for genes affiliated with Werdnig-Hoffman Disease

Products for genes affiliated with Werdnig-Hoffman Disease

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Sources for Werdnig-Hoffman Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet