MCID: WRD018
MIFTS: 23

Werdnig-Hoffman Disease

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Werdnig-Hoffman Disease

MalaCards integrated aliases for Werdnig-Hoffman Disease:

Name: Werdnig-Hoffman Disease 53

Classifications:



Summaries for Werdnig-Hoffman Disease

NINDS : 53 Spinal Muscular Atrophy refers to a group of hereditary diseases that damages and kills specialized nerve cells in the brain and spinal cord (called motor neurons). Motor neurons control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity including speaking, walking, swallowing, and breathing. The most common form of SMA is 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. This form of SMA has four types: • Type l, also called Werdnig-Hoffman disease or infantile-onset SMA, is usually evident before 6 months of age. The most severely affected children will have reduced movement and chronic shortening of muscles or tendons (called contractures). Other children may have symptoms including reduced muscle tone, lack of tendon reflexes, twitching, skeletal abnormalities, and problems swallowing and feeding. Without treatment, many affected children die before age 2 years. • SMA Type ll is usually first noticed between the 6 and 18 months of age. Children can sit without support but are unable to stand or walk unaided. Children also may have respiratory difficulties. Life expectancy is reduced but most individuals live into adolescence or young adulthood. • SMA Type lll (Kugelberg-Welander disease) is seen after age 18 months. Children can walk independently but may have difficulty walking or running, rising from a chair, or climbing stairs. Other complications may include curvature of the spine, contractures, and respiratory infections. With treatment, most individuals can have a normal lfespan. • Individuals with SMA Type IV develop symptoms after age 21 years, with mild to moderate leg muscle weakness and other symptoms.

MalaCards based summary : Werdnig-Hoffman Disease is related to myopathy and spinal muscular atrophy, type i. An important gene associated with Werdnig-Hoffman Disease is DES (Desmin), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Striated Muscle Contraction. The drug Hydroxyurea has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and skeletal muscle, and related phenotype is muscle.

Wikipedia : 74 Spinal muscular atrophy (SMA) is a group of neuromuscular disorders that result in the loss of motor... more...

Related Diseases for Werdnig-Hoffman Disease

Diseases related to Werdnig-Hoffman Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 myopathy 29.4 TTN MYOZ2 DES
2 spinal muscular atrophy, type i 12.4
3 spinal muscular atrophy 11.9
4 spinal muscular atrophy, type iii 11.6
5 muscular atrophy 10.8
6 proximal spinal muscular atrophy 10.6
7 progressive muscular atrophy 10.6
8 volvulus of midgut 10.3
9 respiratory failure 10.3
10 neurogenic bladder 10.3
11 polyneuropathy 10.3
12 orofaciodigital syndrome 10.3
13 hypertonia 10.3
14 hypotonia 10.3
15 cardioneuromyopathy with hyaline masses and nemaline rods 9.9 TTN DES
16 reducing body myopathy 9.8 TTN DES
17 myopathy, myofibrillar, 1 9.8 TTN DES
18 familial isolated dilated cardiomyopathy 9.8 TTN DES
19 atrioventricular block 9.8 TTN DES
20 autosomal recessive limb-girdle muscular dystrophy 9.8 TTN DES
21 cardiomyopathy, dilated, 1e 9.8 TTN DES
22 centronuclear myopathy 9.7 TTN DES
23 miyoshi muscular dystrophy 9.7 TTN DES
24 atrial standstill 1 9.6 TTN DES
25 congenital fiber-type disproportion 9.6 TTN MYOZ2
26 arrhythmogenic right ventricular cardiomyopathy 9.5 TTN DES
27 pleomorphic adenoma 9.5 MYOZ2 DES
28 neuromuscular disease 9.4 TTN DES
29 myofibrillar myopathy 9.3 TTN MYOZ2 DES
30 restrictive cardiomyopathy 9.3 TTN MYOZ2 DES
31 muscular dystrophy, duchenne type 9.2 TTN MYOZ2 DES
32 muscular dystrophy 9.2 TTN MYOZ2 DES
33 left ventricular noncompaction 9.2 TTN MYOZ2 DES
34 rhabdomyosarcoma 9.2 TTN MYOZ2 DES
35 dilated cardiomyopathy 9.2 TTN MYOZ2 DES
36 hypertrophic cardiomyopathy 9.2 TTN MYOZ2 DES

Graphical network of the top 20 diseases related to Werdnig-Hoffman Disease:



Diseases related to Werdnig-Hoffman Disease

Symptoms & Phenotypes for Werdnig-Hoffman Disease

MGI Mouse Phenotypes related to Werdnig-Hoffman Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 DES MYOZ2 TTN

Drugs & Therapeutics for Werdnig-Hoffman Disease

Drugs for Werdnig-Hoffman Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effectiveness of Allogeneic Adipose Derived Mesenchymal Stem Cells (ADMSCs) in the Phenotypic Changes of Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
2 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
3 International Spinal Muscular Atrophy Patient Registry Completed NCT00466349

Search NIH Clinical Center for Werdnig-Hoffman Disease

Genetic Tests for Werdnig-Hoffman Disease

Anatomical Context for Werdnig-Hoffman Disease

MalaCards organs/tissues related to Werdnig-Hoffman Disease:

40
Spinal Cord, Brain, Skeletal Muscle, Tongue, Lung

Publications for Werdnig-Hoffman Disease

Articles related to Werdnig-Hoffman Disease:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Compressive Neuropathy of the Facial Nerve Presenting as Bell's Palsy in a Pediatric Patient on High-Frequency Oscillatory Ventilation. 61
32542146 2020
2
[Spinal muscular atrophy : Time for newborn screening?] 61
29101527 2017
3
Coexistence of type 1 diabetes mellitus and spinal muscular atrophy in an 8-year-old girl: a case report. 61
25669159 2015
4
[Gut feeling in youth health care: 2 cases]. 61
25027209 2014
5
Clinical and molecular characterization of patients with gross hypotonia and impaired lower motor neuron function. 61
23255680 2013
6
Spinal muscular atrophy: clinical spectrum and genetic mutations in Pakistani children. 61
22824686 2012
7
Vascular perfusion abnormalities in infants with spinal muscular atrophy. 61
19619755 2009
8
Pictorial essay of Werdnig-Hoffman disease. 61
19322128 2009
9
Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo). 61
20162870 2009
10
Spinal muscular atrophy type I mimicking critical illness neuropathy in a paediatric intensive care neonate: electrophysiological features. 61
18384992 2008
11
Medical considerations of long-term survival of Werdnig-Hoffmann disease. 61
17449979 2007
12
[Type I spinal atrophy (Werdnig-Hoffman disease). Case report]. 61
17511908 2007
13
[Spinal muscular atrophy associated with olivopontocerebellar hypoplasia. A case report]. 61
15712162 2005
14
Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation. 61
15346918 2004
15
[Progressive spinal amyotrophy type I or Werdnig-Hoffman disease. Apropos of 5 cases in Dakar (Senegal)]. 61
12145964 2002
16
[Mental stress of visiting-nursing staff in cases of severely handicapped children with respirators]. 61
11190309 2000
17
Urodynamics in a patient with Werdnig-Hoffman disease. 61
11178590 1999
18
Oral-facial-digital syndrome (OFDS) type I in a patient with Werdnig-Hoffman disease. 61
9522240 1998
19
Childhood neuromuscular disorders: a decade's experience in Saudi Arabia. 61
8985523 1996
20
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. 61
8730281 1996
21
[Contribution of the electromyogram in the diagnosis of infantile spinal muscular atrophy in the neonatal period]. 61
8762951 1996
22
Pathological cases of the month. Type 1 spinal muscular atrophy (Werdnig-Hoffman disease). 61
8352229 1993
23
[An association of Werdnig-Hoffman disease and pregnancy: apropos of an unusual case]. 61
2345274 1990
24
[Infantile spinal muscular atrophy]. 61
2660222 1989
25
Plastic bowing of the ribs in children. 61
3212486 1988
26
Chromatolytic neurons in Werdnig-Hoffmann disease contain phosphorylated neurofilaments. 61
3149123 1988
27
Imaging case of the month: Werdnig-Hoffman disease. 61
3606762 1987
28
Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? 61
3976363 1985
29
[Secondary myopathy in Werdnig-Hoffman disease]. 61
6498557 1984
30
Increased muscle action potentials by 5 Hz prolonged nerve stimulation in neurological and neuromuscular disorders--clinical usefulness for detecting underlying pathophysiology. 61
6486378 1984
31
Lung function in infants with congenital pulmonary hypoplasia. 61
7143168 1982
32
Acute gastric volvulus following Harrington rod instrumentation in a patient with Werdnig-Hoffman disease. 61
7302686 1981
33
Spinal autonomic neurons in Werdnig-Hoffmann disease, mannosidosis, and Hurler's syndrome: distribution of autonomic neurons in the sacral spinal cord. 61
6783738 1980
34
Classification of spinal muscular atrophies. 61
6103267 1980
35
Case study - Werdnig Hoffman disease. Master G.B.: the story of a remarkable child, his family, and community. 61
6934438 1980
36
[Spinal amyotonia-amyotrophy (Werdnig-Hoffman disease) on the basis of observation of 40 cases]. 61
7357655 1980
37
"Glial bundles" in the spinal cord late after paralytic anterior poliomyelitis. 61
742857 1978
38
Unusual type of neural muscular atrophy with a possible X-chromosomal inheritance pattern. 61
568868 1978
39
Sparing of the Onufrowicz nucleus in sacral anterior horn lesions. 61
718135 1978
40
[Werdnig-Hoffman disease in a 2-month-old infant]. 61
654293 1978
41
Werdnig-Hoffmann disease: proposal of a pathogenetic mechanism. 61
636837 1978
42
A kindred with red cell pyruvate kinase deficiency. 61
887038 1977
43
Animal model of human disease. Infantile spinal muscular atrophy, Werdnig-Hoffman disease. Animal model: Hereditary neuronal abiotrophy in Swedish Lapland dogs. 61
1258980 1976
44
Chronic generalized spinal muscular atrophy of infancy and childhood. Arrested Werdnig-Hoffman disease. 61
4749680 1973
45
Respiratory syncytial virus in hospital cross-infection. 61
5569549 1971
46
[Werdnig-Hoffman disease (apropos of 3 cases)]. 61
5941212 1966
47
[WERDNIG HOFFMAN DISEASE WITH ACUTE RESPIRATORY ACCIDENTS]. 61
14169367 1964
48
[WERDNIG -HOFFMAN DISEASE. A REPORT ON 2 OBSERVATIONS]. 61
14145338 1963
49
[Contribution to the problem of the diagnosis of Werdnig-Hoffman disease]. 61
13916648 1961
50
[Catamnestic inquiries in conditions of hypertonia in early childhood. With a critical contribution to the differential diagnosis of infantile spinal progressive muscular atrophy (Werdnig-Hoffman disease--myatonia congenital Oppenheilm)]. 61
13848453 1959

Variations for Werdnig-Hoffman Disease

Expression for Werdnig-Hoffman Disease

Search GEO for disease gene expression data for Werdnig-Hoffman Disease.

Pathways for Werdnig-Hoffman Disease

Pathways related to Werdnig-Hoffman Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.23 TTN DES
2 10.48 TTN DES

GO Terms for Werdnig-Hoffman Disease

Cellular components related to Werdnig-Hoffman Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 8.96 TTN MYOZ2
2 Z disc GO:0030018 8.8 TTN MYOZ2 DES

Biological processes related to Werdnig-Hoffman Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 TTN DES
2 sarcomere organization GO:0045214 8.96 TTN MYOZ2
3 muscle filament sliding GO:0030049 8.62 TTN DES

Molecular functions related to Werdnig-Hoffman Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 telethonin binding GO:0031433 8.62 TTN MYOZ2

Sources for Werdnig-Hoffman Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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