Spinal Muscular Atrophy, Jokela Type; Smaj

Description

The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Spinal Muscular Atrophy, Jokela Type; Smaj

  • Ataxia
  • Muscle weakness
  • Myopathy
  • Pain
  • Skeletal muscle atrophy
  • Gait disturbance
  • Tremor
  • Hyporeflexia
  • Elevated serum creatine phosphokinase
  • Areflexia
And another 18 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Spinal Muscular Atrophy, Jokela Type; Smaj Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Frontotemporal dementia (NGS panel for 13 genes).

By CGC Genetics in Portugal.

PSEN1, VCP, GRN, MAPT, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A
Specificity
8 %
Genes
100 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Frontotemporal dementia with motor neuron disease (sequence analysis of CHCHD10 gene).

By CGC Genetics in Portugal.

CHCHD10
Specificity
100 %
Genes
100 %
Spinal muscular atrophy (NGS panel for 21 genes).

By CGC Genetics in Portugal.

ATP7A, GARS, REEP1, SCO2, TRPV4, HSPB8, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7, CHCHD10, EXOSC8 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
CHCHD10.

By MGZ Medical Genetics Center in Germany.

CHCHD10
Specificity
100 %
Genes
100 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies.

By MGZ Medical Genetics Center in Germany.

OPTN, VCP, REEP1, SQSTM1, HEXA, GBE1, SOD1, FIG4, SPG11, MATR3, BSCL2, ALS2, FUS, SETX, DCTN1, TARDBP, ANG, VAPB, UBQLN2, BICD2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Comprehensive mtDNA Depletion Syndromes NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

TWNK, OPA1, POLG, SLC25A4, AFG3L2, RRM2B, DGUOK, SUCLA2, POLG2, TK2, TYMP, MPV17, SUCLG1, MGME1, FBXL4, CHCHD10
Specificity
7 %
Genes
100 %
Amyotrophic Lateral Sclerosis (ALS) Panel.

By CeGaT GmbH in Germany.

HFE, OPTN, VCP, GRN, PARK7, SQSTM1, SOD1, NEFH, ATXN1, FIG4, SPG11, MAPT, C9orf72, ATXN2, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Frontotemporal Dementia (FTD) Panel.

By CeGaT GmbH in Germany.

PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, C9orf72, NOTCH3, ATXN2, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Spinal Muscular Atrophy Panel.

By CeGaT GmbH in Germany.

ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Dementia all Panel.

By CeGaT GmbH in Germany.

APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Spinal Muscular Atrophy (SMA) Panel.

By CeGaT GmbH in Germany.

ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Single gene testing CHCHD10.

By CeGaT GmbH in Germany.

CHCHD10
Specificity
100 %
Genes
100 %
Amyotrophic lateral sclerosis.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

OPTN, GRN, SQSTM1, SOD1, NEFH, FIG4, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, TBK1, CHCHD10 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Amyotrophic Lateral Sclerosis.

By Asper Biogene Asper Biogene LLC in Estonia.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Invitae Hereditary Motor Neuropathy Panel.

By Invitae in United States.

ATP7A, GARS, REEP1, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, PLEKHG5, DNAJB2, HINT1, SLC5A7 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Invitae Amyotrophic Lateral Sclerosis Panel.

By Invitae in United States.

OPTN, SOD1, SPG11, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, CHCHD10
Specificity
8 %
Genes
100 %
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel.

By Invitae in United States.

APP, PSEN1, OPTN, VCP, GRN, SOD1, SPG11, PSEN2, MAPT, SNCA, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, PRNP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Invitae Frontotemporal Dementia Panel.

By Invitae in United States.

VCP, GRN, MAPT, FUS, DCTN1, TARDBP, UBQLN2, TBK1, CHCHD10
Specificity
12 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Amyotrophic Lateral Sclerosis Panel.

By Blueprint Genetics in Finland.

OPTN, HSPD1, VCP, REEP1, GRN, SQSTM1, HEXA, GBE1, SOD1, PRF1, FIG4, ATL1, SPG11, SPAST, KIF5A, BSCL2, WASHC5, SPART, ALS2, FUS , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Spinal Muscular Atrophy Panel.

By Blueprint Genetics in Finland.

ATP7A, GARS, REEP1, SCO2, HEXA, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

VCP, SQSTM1, SOD1, NEFH, FIG4, C9orf72, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, CHCHD10, PRPH
Specificity
7 %
Genes
100 %
AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

OPTN, VCP, SQSTM1, SOD1, NEFH, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, CHCHD10 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

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