MCID: ATS418
MIFTS: 12

Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Spinal Muscular Atrophy, Lower...

MalaCards integrated aliases for Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2:

Name: Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 20
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures 20
Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy with Contractures 20
Atrophy, Muscular, Spinal, Lower Extremity Predominant, Type 2, Autosomal Dominant 39
Spinal Muscular Atrophy, Lower Extremity-Predominant 2, Autosomal Dominant 20
Smaled2 20

Classifications:



Summaries for Autosomal Dominant Spinal Muscular Atrophy, Lower...

GARD : 20 Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2) is a rare neurological disease characterized by early-childhood onset of muscle weakness and loss of muscle tissue (muscle atrophy), mostly affecting the muscles of the thighs. It is a subtype of the group of diseases known as spinal muscular atrophy. Symptoms include delayed walking, waddling gait, difficulty walking, foot deformities, and loss of some reflexes. Joint contractures are reported frequently, and a few patients present with congenital hip dysplasia. Other symptoms that have being described are an exaggerated curvature of the lower back ( hyperlordosis ), increased or decreased muscle tone, small chin ( micrognathia ), respiratory insufficiency, small head ( microcephaly ), and extra ridges or folds in the brain surface (polymicrogyria). Sensation and cognitive function are normal in most cases. Many patients show evident atrophy of the lower limbs and a very broad upper body, which resembles a bodybuilder-like shape. The disease has very slow progression throughout life. It is caused by mutations in the BICD2 gene. Inheritance is autosomal dominant. There is no cure and treatment is directed to the symptoms present in each individual patient.

MalaCards based summary : Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2, also known as lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures, is related to spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant and spinal muscular atrophy with lower extremity predominance. An important gene associated with Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 is BICD2 (BICD Cargo Adaptor 2).

Related Diseases for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Diseases in the Spinal Muscular Atrophy with Lower Extremity Predominante 2b family:

Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2

Diseases related to Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 11.8
2 spinal muscular atrophy with lower extremity predominance 11.7
3 spinal muscular atrophy 10.1
4 muscular atrophy 10.1
5 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 9.9
6 myopathy 9.9
7 congenital contractures 9.9
8 autosomal dominant childhood-onset proximal spinal muscular atrophy 9.9
9 overgrowth syndrome 9.9

Graphical network of the top 20 diseases related to Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2:



Diseases related to Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2

Symptoms & Phenotypes for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Drugs & Therapeutics for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2

Genetic Tests for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Anatomical Context for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Publications for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Articles related to Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2:

# Title Authors PMID Year
1
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. 20
27751653 2016
2
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. 20
26998597 2016
3
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 61
30054298 2018
4
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. 61
28635954 2017

Variations for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Expression for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Search GEO for disease gene expression data for Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2.

Pathways for Autosomal Dominant Spinal Muscular Atrophy, Lower...

GO Terms for Autosomal Dominant Spinal Muscular Atrophy, Lower...

Sources for Autosomal Dominant Spinal Muscular Atrophy, Lower...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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