Spinal Muscular Atrophy, Type Iv; Sma4
Clinical Features
Top most frequent phenotypes and symptoms related to Spinal Muscular Atrophy, Type Iv; Sma4
- Muscle weakness
- Skeletal muscle atrophy
- Tremor
- Areflexia
- Proximal muscle weakness
- Fasciculations
- Spinal muscular atrophy
- Hand tremor
- EMG: neuropathic changes
- Proximal amyotrophy
And another 3 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
Spinal Muscular Atrophy, Type Iv; Sma4 Is also known as spinal muscular atrophy, proximal, adult, autosomal recessive, spinal muscular atrophy, adult form.
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.Spinal Muscular Atrophy, Type Iv; Sma4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
SMN1 Deletion Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SMN1
Specificity
100 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
GeneAware Basic Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
SMN1, CFTR, DMD, FMR1, HBA1, HBA2, HBB
Specificity
15 %
Genes
100 % |
GeneAware Basic Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
SMN1, CFTR, HBA1, HBA2, HBB
Specificity
20 %
Genes
100 % |
GeneAware Ashkenazi Jewish Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)
View the complete list with 19 more genes
Specificity
3 %
Genes
100 % |
GeneAware ACMG/ACOG Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SMN1, SMPD1, MCOLN1, CFTR, FANCC, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
8 %
Genes
100 % |
GeneAware Ashkenazi Jewish Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
You can get up to 103 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UV-SENSITIVE SYNDROME 2; UVSS2 MAY-HEGGLIN ANOMALY; MHA GALACTOSE EPIMERASE DEFICIENCY HYPERTHYROIDISM, FAMILIAL GESTATIONAL ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 ANOSMIA, ISOLATED CONGENITAL; ANIC SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE