MCID: SPN423
MIFTS: 16

Spinal Muscular Atrophy with Lower Extremity Predominance

Categories: Muscle diseases

Aliases & Classifications for Spinal Muscular Atrophy with Lower Extremity Predominance

MalaCards integrated aliases for Spinal Muscular Atrophy with Lower Extremity Predominance:

Name: Spinal Muscular Atrophy with Lower Extremity Predominance 25
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant 25 13
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures 25
Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy with Contractures 25
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 25
Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant 25
Atrophy, Muscular, Spinal, Lower Extremity, Autosomal Dominant 40
Spinal Muscular Atrophy, Lower Extremity, Dominant 25
Kugelberg-Welander Syndrome, Autosomal Dominant 25
Sma-Led 25

Classifications:



Summaries for Spinal Muscular Atrophy with Lower Extremity Predominance

Genetics Home Reference : 25 Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterized by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the "D" stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles.

MalaCards based summary : Spinal Muscular Atrophy with Lower Extremity Predominance, also known as spinal muscular atrophy, lower extremity, autosomal dominant, is related to muscular atrophy and spinal muscular atrophy. An important gene associated with Spinal Muscular Atrophy with Lower Extremity Predominance is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and COPI-independent Golgi-to-ER retrograde traffic.

Related Diseases for Spinal Muscular Atrophy with Lower Extremity Predominance

Diseases related to Spinal Muscular Atrophy with Lower Extremity Predominance via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular atrophy 29.4 BICD2 DYNC1H1
2 spinal muscular atrophy 29.1 BICD2 DYNC1H1
3 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.8
4 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 11.7

Symptoms & Phenotypes for Spinal Muscular Atrophy with Lower Extremity Predominance

Drugs & Therapeutics for Spinal Muscular Atrophy with Lower Extremity Predominance

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy with Lower Extremity Predominance

Genetic Tests for Spinal Muscular Atrophy with Lower Extremity Predominance

Anatomical Context for Spinal Muscular Atrophy with Lower Extremity Predominance

Publications for Spinal Muscular Atrophy with Lower Extremity Predominance

Articles related to Spinal Muscular Atrophy with Lower Extremity Predominance:

# Title Authors Year
1
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. ( 26998597 )
2016
2
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance. ( 25484024 )
2015
3
A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance. ( 27066557 )
2015
4
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. ( 22847149 )
2012
5
Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. ( 20697106 )
2010

Variations for Spinal Muscular Atrophy with Lower Extremity Predominance

Expression for Spinal Muscular Atrophy with Lower Extremity Predominance

Search GEO for disease gene expression data for Spinal Muscular Atrophy with Lower Extremity Predominance.

Pathways for Spinal Muscular Atrophy with Lower Extremity Predominance

Pathways related to Spinal Muscular Atrophy with Lower Extremity Predominance according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 BICD2 DYNC1H1
2 10.07 BICD2 DYNC1H1

GO Terms for Spinal Muscular Atrophy with Lower Extremity Predominance

Cellular components related to Spinal Muscular Atrophy with Lower Extremity Predominance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 8.62 BICD2 DYNC1H1

Biological processes related to Spinal Muscular Atrophy with Lower Extremity Predominance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 8.62 BICD2 DYNC1H1

Molecular functions related to Spinal Muscular Atrophy with Lower Extremity Predominance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light intermediate chain binding GO:0051959 8.62 BICD2 DYNC1H1

Sources for Spinal Muscular Atrophy with Lower Extremity Predominance

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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