Autosomal Dominant Adult-onset Proximal Spinal Muscular Atrophy

Description

Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting.See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4 ), caused by defect in the SMN1 gene (OMIM ), and autosomal dominant childhood-onset proximal SMA (OMIM ).

Clinical Features

Phenotypes and symptoms related to Autosomal Dominant Adult-onset Proximal Spinal Muscular Atrophy

  • Muscle weakness
  • Skeletal muscle atrophy
  • Areflexia
  • Hyporeflexia
  • Proximal muscle weakness
  • Fasciculations
  • Spinal muscular atrophy
  • EMG: neuropathic changes
  • Progressive spinal muscular atrophy
  • Proximal spinal muscular atrophy

Incidence and onset information

— Based on the latest data available Autosomal Dominant Adult-onset Proximal Spinal Muscular Atrophy have a estimated prevalence of 0.1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Autosomal Dominant Adult-onset Proximal Spinal Muscular Atrophy Is also known as spinal muscular atrophy, proximal, adult, autosomal dominant, autosomal dominant adult-onset proximal sma, autosomal dominant late-onset spinal muscular atrophy, finkel type, finkel late-adult type sma, finkel disease, smafk.

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.


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Autosomal Dominant Adult-onset Proximal Spinal Muscular Atrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
6 %
Genes
100 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SQSTM1, TARDBP, UBQLN2, VAPB, VCP, FIG4, OPTN, CHMP2B, DCTN1, FUS, ALS2, SETX, ANG, SIGMAR1, PFN1
Specificity
7 %
Genes
100 %
Amyotrophic Lateral Sclerosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

ATXN2, SOD1, TARDBP, UBQLN2, VAPB, VCP, VEGFA, FIG4, OPTN, SPART, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, ANG, NEFH, SIGMAR1, PFN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Amyotrophic lateral sclerosis 8 (sequence analysis of VAPB gene).

By CGC Genetics (Portugal).

VAPB
Specificity
100 %
Genes
100 %
Spinal muscular atrophy (NGS panel for 21 genes).

By CGC Genetics (Portugal).

SCO2, UBA1, VAPB, VRK1, SLC5A7, CHCHD10, BSCL2, EXOSC8, BICD2, TRPV4, REEP1, DCTN1, FBXO38, PLEKHG5, DYNC1H1, HSPB8, GARS, DNAJB2, IGHMBP2, ASAH1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SOD1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP, OPTN, CDH13, TREM2, CHMP2B, C9orf72, ARHGEF28, FUS, SETX, GRN, ANG, HNRNPA1, HNRNPA2B1, ANXA11 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset and Amyotrophic Lateral Sclerosis-8 via VAPB Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

VAPB
Specificity
100 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, CHCHD10, FIG4, OPTN, CHMP2B, ARHGEF28, ERBB4, FUS, ALS2, SETX, ANG, HNRNPA1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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