MCID: PRX014
MIFTS: 36

Proximal Spinal Muscular Atrophy malady

Categories: Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Proximal Spinal Muscular Atrophy

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Sources:
65UMLS, 51Orphanet, 45NIH Rare Diseases, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Proximal Spinal Muscular Atrophy:

Name: Proximal Spinal Muscular Atrophy 45 51 65
Spinal Muscular Atrophy 65
 
Sma 51

Characteristics:

Orphanet epidemiological data:

51
proximal spinal muscular atrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age

Classifications:



External Ids:

Orphanet51 70
ICD10 via Orphanet28 G12.0, G12.1
UMLS65 C4024957

Summaries for Proximal Spinal Muscular Atrophy

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MalaCards based summary: Proximal Spinal Muscular Atrophy, also known as spinal muscular atrophy, is related to proximal spinal muscular atrophy type 2 and autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, and has symptoms including muscular hypotonia, reduced tendon reflexes and skeletal muscle atrophy. An important gene associated with Proximal Spinal Muscular Atrophy is LMNA (Lamin A/C), and among its related pathways is COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include skeletal muscle, skin and bone.

Related Diseases for Proximal Spinal Muscular Atrophy

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Diseases in the Proximal Spinal Muscular Atrophy family:

Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant Proximal Spinal Muscular Atrophy Type 3
Proximal Spinal Muscular Atrophy Type 4 Proximal Spinal Muscular Atrophy Type 2

Diseases related to Proximal Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1proximal spinal muscular atrophy type 232.9NAIP, SMN1, SMN2
2autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures12.3
3autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures12.3
4autosomal dominant childhood-onset proximal spinal muscular atrophy12.3
5adult-onset proximal spinal muscular atrophy, autosomal dominant12.2
6proximal spinal muscular atrophy type 312.2
7proximal spinal muscular atrophy type 412.2
8spinal muscular atrophy-111.5
9spinal muscular atrophy, lower extremity-predominant 1, ad11.4
10spinal muscular atrophy11.2
11muscular atrophy10.8
12megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome10.3SMN1, SMN2
13sandhoff disease, infantile, juvenile, and adult forms10.2SMN1, SMN2
14spinal muscular atrophy, late-onset, finkel type10.1
15scoliosis10.1
16congenital stationary night blindness10.1SMN1, SMN2
17oligodendroglioma10.0SMN1, SMN2
18upper lip cancer10.0SMN1, SMN2
19lateral sclerosis9.9
20muscular dystrophy9.9
21progressive muscular dystrophy9.9
22setx9.9
23dysautonomia9.9
24trachea adenoid cystic carcinoma9.9SMN1, SMN2
25regional odontodysplasia9.7NAIP, SMN1, SMN2
26spinal muscular atrophy with progressive myoclonic epilepsy9.7SMN1, SMN2
27complex partial epilepsy9.7NAIP, SMN1, SMN2
28body dysmorphic disorder9.7NAIP, SMN1, SMN2
29spinal muscular atrophy-39.7NAIP, SMN1, SMN2
30spinal muscular atrophy-49.7NAIP, SMN1, SMN2
31spinal muscular atrophy-29.6NAIP, SMN1, SMN2
32kummell's disease9.6NAIP, SMN1, SMN2
33dermatosis papulosa nigra9.6NAIP, SMN1, SMN2
34mucolipidoses9.5NAIP, SMN1, SMN2
35spta1-related spherocytosis9.5SETX, SMN1, SMN2
36testicular fibroma9.0BICD2, NAIP, SMN1, SMN2, SMNDC1
37spinal stenosis9.0BICD2, NAIP, SMN1, SMN2, SMNDC1
38jervell and lange-nielsen syndrome 28.8NAIP, SETX, SMN1, SMN2
39prurigo nodularis6.9BICD2, DNAI1, LMNA, NAIP, RAB6A, SETX

Graphical network of the top 20 diseases related to Proximal Spinal Muscular Atrophy:



Diseases related to proximal spinal muscular atrophy

Symptoms for Proximal Spinal Muscular Atrophy

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Symptoms:

 51 (show all 17)
  • movement disorder
  • hypotonia
  • areflexia/hyporeflexia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • autosomal recessive inheritance
  • preauricular/branchial tags/appendages
  • rib number anomalies
  • abnormal cry/voice/phonation disorder/nasal speech
  • lymphedema
  • mutiple fractures/bone fragility
  • restricted joint mobility/joint stiffness/ankylosis
  • stillbirth/neonatal death
  • polyhydramnios
  • intrauterine growth retardation

HPO human phenotypes related to Proximal Spinal Muscular Atrophy:

(show all 14)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 reduced tendon reflexes hallmark (90%) HP:0001315
3 skeletal muscle atrophy hallmark (90%) HP:0003202
4 emg abnormality hallmark (90%) HP:0003457
5 hemiplegia/hemiparesis hallmark (90%) HP:0004374
6 abnormality of movement hallmark (90%) HP:0100022
7 preauricular skin tag typical (50%) HP:0000384
8 abnormality of the ribs typical (50%) HP:0000772
9 lymphedema typical (50%) HP:0001004
10 limitation of joint mobility typical (50%) HP:0001376
11 intrauterine growth retardation typical (50%) HP:0001511
12 polyhydramnios typical (50%) HP:0001561
13 abnormality of the voice typical (50%) HP:0001608
14 recurrent fractures typical (50%) HP:0002757

UMLS symptoms related to Proximal Spinal Muscular Atrophy:


sleeplessness, vertigo/dizziness, hyperexplexia, chronic pain, tremor, syncope, seizures, sciatica, pain, headache, back pain

Drugs & Therapeutics for Proximal Spinal Muscular Atrophy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Proximal Spinal Muscular Atrophy

Genetic Tests for Proximal Spinal Muscular Atrophy

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Anatomical Context for Proximal Spinal Muscular Atrophy

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MalaCards organs/tissues related to Proximal Spinal Muscular Atrophy:

33
Skeletal muscle, Skin, Bone, Prostate, Myeloid, Trachea, B cells

Animal Models for Proximal Spinal Muscular Atrophy or affiliated genes

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Publications for Proximal Spinal Muscular Atrophy

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Articles related to Proximal Spinal Muscular Atrophy:

(show top 49)    (show all 55)
idTitleAuthorsYear
1
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015. (25990799)
2015
2
SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1]. (26606804)
2015
3
Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients. (24093531)
2013
4
Proximal spinal muscular atrophy: current orthopedic perspective. (24399883)
2013
5
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. (23664119)
2013
6
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. (22088787)
2012
7
Clinical utility gene card for: proximal spinal muscular atrophy. (22510849)
2012
8
Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients. (23053190)
2012
9
Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR. (21529108)
2011
10
Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients. (20939690)
2011
11
Fractures in proximal spinal muscular atrophy. (20364429)
2010
12
Neurophysiological findings of the late-onset, dominant, proximal spinal muscular atrophies with dysautonomia because of the VAPB PRO56SER mutation. (18677189)
2008
13
Brachial amyotrophic diplegia (segmental proximal spinal muscular atrophy) associated with HIV infection. (19010950)
2008
14
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. (17136397)
2007
15
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
16
Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity. (9605392)
1998
17
The role of the SMN gene in proximal spinal muscular atrophy. (9735373)
1998
18
Different entities of proximal spinal muscular atrophy within one family. (9341891)
1997
19
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. (9077498)
1997
20
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. (9199562)
1997
21
Biphasic intra-abdominal desmoplastic small cell tumor in a patient with proximal spinal muscular atrophy. (10846550)
1996
22
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. (8900246)
1996
23
Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases. (7644431)
1995
24
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. (8030672)
1994
25
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy. (8023839)
1994
26
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. (7977383)
1994
27
Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy. (8170486)
1994
28
Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families. (8105458)
1993
29
The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy. (7907903)
1993
30
Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q. (1570842)
1992
31
Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution. (2063872)
1991
32
Heterogeneity in proximal spinal muscular atrophy. (1975919)
1990
33
Clinical and morphometric analysis of biopsied biceps brachii muscles in adult-onset chronic proximal spinal muscular atrophy. With special reference to intramuscular nerves. (3401687)
1988
34
Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy. (3951479)
1986
35
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. (4078864)
1985
36
Juvenile proximal spinal muscular atrophy with early hypertrophy of calves. (6878107)
1983
37
Gastrointestinal radiologic manifestations of proximal spinal muscular atrophy (Kugelberg-Welander syndrome). (7120481)
1982
38
Diaphragm paralysis and ventilatory failure in chronic proximal spinal muscular atrophy. (7224359)
1981
39
A family of juvenile proximal spinal muscular atrophy with dominant inheritance. (933110)
1976
40
A clinical and genetic study of chronic proximal spinal muscular atrophy. (1182487)
1975
41
The Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5173132)
1971
42
Familial adult-onset proximal spinal muscular atrophy. Report of a family with type II hyperlipoproteinemia. (5439897)
1970
43
Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5933049)
1966
44
Familial proximal spinal muscular atrophy. (4952447)
1966
45
Proximal spinal muscular atrophy. (5910575)
1966
46
HEREDITARY PROXIMAL SPINAL MUSCULAR ATROPHY. BIOCHEMICAL INVESTIGATIONS. (14267799)
1965
47
Familial proximal spinal muscular atrophy. Study of a large pedigree. (5857744)
1965
48
STUDIES ON CARBOHYDRATE METABOLISM IN AMYOTROPHIC LATERAL SCLEROSIS AND HEREDITARY PROXIMAL SPINAL MUSCULAR ATROPHY. (14108417)
1964
49
Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy. (13301901)
1955

Variations for Proximal Spinal Muscular Atrophy

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Expression for genes affiliated with Proximal Spinal Muscular Atrophy

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Search GEO for disease gene expression data for Proximal Spinal Muscular Atrophy.

Pathways for genes affiliated with Proximal Spinal Muscular Atrophy

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Pathways related to Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6BICD2, RAB6A

GO Terms for genes affiliated with Proximal Spinal Muscular Atrophy

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Cellular components related to Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Cajal bodyGO:001503010.3SMN1, SMN2
2perikaryonGO:004320410.2SMN1, SMN2
3cytoplasmic ribonucleoprotein granuleGO:00364649.7SMN1, SMN2
4cytoplasmGO:00057377.4BICD2, NAIP, SETX, SMN1, SMN2, SMNDC1

Biological processes related to Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear importGO:005117010.0SMN1, SMN2
2minus-end-directed organelle transport along microtubuleGO:00723859.7BICD2, RAB6A
3spliceosomal complex assemblyGO:00002459.7SMN1, SMN2
4spliceosomal snRNP assemblyGO:00003879.4SMN1, SMN2

Sources for Proximal Spinal Muscular Atrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet