Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Description
Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
Genes related to Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
- TRPV4
Clinical Features
Top most frequent phenotypes and symptoms related to Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
- Scoliosis
- Muscle weakness
- Muscular hypotonia
- Flexion contracture
- Motor delay
- Peripheral neuropathy
- Skeletal muscle atrophy
- Talipes equinovarus
- Kyphosis
- Areflexia
And another 34 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy Is also known as autosomal dominant benign distal spinal muscular atrophy, spinal muscular atrophy, distal, congenital nonprogressive, dhmn8, neuropathy, distal hereditary motor, type viii, spinal muscular atrophy, congenital benign, with contractures, congenital benign spinal.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Autosomal Dominant Congenital Benign Spinal Muscular Atrophy Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 CMT Advanced Evaluation - Dominant.
By Athena Diagnostics Inc (United States).
YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A
Specificity
8 %
Genes
100 % |
|
CMT Advanced Evaluation - Dominant, Axonal.
By Athena Diagnostics Inc (United States).
YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
10 %
Genes
100 % |
|
CMT Advanced Evaluation - Comprehensive.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
|
CMT Advanced Evaluation - Axonal.
By Athena Diagnostics Inc (United States).
YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
8 %
Genes
100 % |
|
TRPV4 DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
TRPV4
Specificity
100 %
Genes
100 % |
|
CMT Advanced Evaluation - Nonprevalent.
By Athena Diagnostics Inc (United States).
YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
|
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
UBA1, VRK1, BICD2, TRPV4, DYNC1H1, HSPB8, GARS, HSPB1, HSPB3, IGHMBP2
Specificity
10 %
Genes
100 % |
|
CMT Advanced Evaluation - Nonprevalent Axonal.
By Athena Diagnostics Inc (United States).
YARS, GDAP1, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, NEFL, RAB7A
Specificity
10 %
Genes
100 % |
You can get up to 155 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MIRROR MOVEMENTS 1; MRMV1 IMMUNODEFICIENCY 27A; IMD27A