Clinical Tools

Motor Neuron Disease

Acquired

Cramp-fasiculation syndrome (BC Neuro)

Genetic

Familial ALS ALS2 ANG ANXA11 APP CHCHD10 CHMP2B DCTN1 ERBB4 FUS GRN HEXA HNRNPA2B1 ITM2B KIF5A MAPT OPTN PFN1 PRNP PSEN1 PSEN2 SETX SNCA SOD1 SORL1 SPG11 SQSTM1 TARDBP TBK1 TFG TREM2 UBQLN2 VAPB VCP NO C9ORF72 (Invitae)
Familial ALS C9ORF72 (North York General Hospital)
SMA (Invitae, SickKids or CHEO)
X-Linked Bulbar Muscular Atrophy (SickKids or North York General Hospital)

Peripheral Neuropathy

Acquired

Ganglioside antibodies (London Health Sciences)
Peripheral nerve hyper-excitability (BC Neuro)
Nodal and Paranodal Antibodies - Neurofascin and contactin (BC Neuro)

Genetic

Charcot Marie Tooth (London Health Sciences)
Hereditary Sensory Neuropathy (London Health Sciences)
HSP (SickKids)
Fabry Disease (SickKids)
Friedrich Ataxia (North York General Hospital)
SCA (North York General Hospital)
TTR Amyloid (Invitae, London Health Sciences)
Leukodystrophy (Invitae)

446 Genes: AARS AARS2 ABAT ABCA1 ABCD1 ACADS ACER3 ACO2 ACOX1 ACP5 ACY1 ADAR ADGRG1 ADK ADSL AGA AHDC1 AIFM1 AIMP1 AIMP2 ALDH3A2 ALDH5A1 ALDH6A1 ALG2 AMACR AMPD2 ANK3 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APOPT1 APP ARCN1 ARHGAP31 ARNT2 ARSA ARX ASNS ASPA ASXL1 ASXL2 ATP13A2 ATP7A ATP7B ATP8A2 ATPAF2 ATRN AUH B3GALNT2 BCAP31 BCL11B BCS1L BMP4 BOLA3 BRAT1 C12orf65 C19orf12 CACNA1A CARS2 CCDC88A CHMP2B CLCN2 CLCN7 CLN6 CLP1 CLPP CNTNAP1 COASY COL4A1 COL4A2 COQ2 COQ7 COQ8A COQ9 COX10 COX14 COX15 COX20 COX6B1 COX7B COX8A CP CPLX1 CPS1 CRAT CSF1R CTBP1 CTC1 CTDP1 CTNS CTSA CYP27A1 CYP2U1 CYP7B1 D2HGDH DAG1 DARS DARS2 DBT DCAF17 DDC DDHD2 DDOST DEAF1 DEGS1 DGUOK DHFR DLL4 DNM1L DNM2 DOCK6 DPYS DYRK1A EARS2 EDNRB EGR2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELOVL4 ENTPD1 EPG5 EPRS ERCC2 ERCC3 ERCC6 ERCC8 ETFA ETFB ETFDH ETHE1 FA2H FAM126A FARS2 FARSB FASTKD2 FBXL4 FDX2 FGD4 FGFRL1 FH FIG4 FKRP FKTN FOLR1 FOXC1 FOXG1 FOXRED1 FTL FUCA1 GAA GALC GALT GAN GBE1 GCDH GDAP1 GFAP GFM1 GFM2 GJA1 GJB1 GJC2 GLA GLB1 GLDC GLRX5 GLUL GLYCTK GNAO1 GRM7 GRN GTF2H5 GTPBP2 HEPACAM HEXA HIBCH HIKESHI HK1 HMGCL HSD17B4 HSPD1 HTRA1 IBA57 IDH2 IDS IDUA IER3IP1 IFIH1 ISCA1 ISCA2 ITPA JAM3 KARS KCNJ10 KCNT1 KIAA1161 KIF1A KIF5A L2HGDH LAMA1 LAMA2 LAMB1 LARGE1 LETM1 LIAS LIPT1 LIPT2 LMNB1 LONP1 LRPPRC LYRM7 MAG MAN2B1 MAPT MARS2 MAT1A MCOLN1 MEF2C MGP MLC1 MLYCD MOCS1 MOCS2 MPLKIP MPV17 MPZ MRPL44 MRPS16 MRPS22 MTFMT MTHFR MTR MTRR MUT NADK2 NAXD NAXE NDRG1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NGLY1 NKX6-2 NOTCH1 NOTCH3 NPC1 NPC2 NRXN1 NUBPL NUP62 OCRL OSGEP OTC PAFAH1B1 PAH PANK2 PARS2 PC PCDH12 PDYN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGK1 PHGDH PHYH PIGA PINK1 PLA2G6 PLEKHG2 PLP1 PMP22 PNPT1 POLG POLG2 POLR1A POLR1C POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 PPP2R1A PPT1 PRF1 PRKDC PRNP PRPS1 PSAP PSAT1 PSEN1 PTEN PURA PUS3 PYCR2 QARS RARS RBPJ REPS1 RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF216 RPIA RPS6KC1 RRM2B SAMHD1 SCO1 SCO2 SCP2 SDHA SDHAF1 SDHB SDHD SEPSECS SERAC1 SH3TC2 SHPK SLC13A3 SLC16A2 SLC17A5 SLC19A3 SLC1A2 SLC1A4 SLC20A2 SLC25A1 SLC25A12 SLC25A22 SLC25A4 SLC25A42 SLC33A1 SLC35A2 SLC46A1 SLC6A8 SLC6A9 SNIP1 SNORD118 SNRPB SON SOX10 SPART SPAST SPATA5 SPG11 SPG7 SPTAN1 SQSTM1 SSR4 STAMBP STAT1 STN1 STX11 STXBP1 STXBP2 SUCLA2 SUMF1 SURF1 SYNE1 TACO1 TAF2 TARS2 TBC1D24 TBCD TBCK TIMM50 TM4SF20 TMEM106B TMEM126B TMEM165 TMEM70 TMTC3 TPI1 TRAPPC11 TRAPPC9 TREM2 TREX1 TRMT10A TRMT5 TSC1 TSEN54 TTC19 TUBB2A TUBB4A TUFM TWNK TYMP TYROBP UBE2A UFM1 UGT1A1 UNC13D UPB1 VARS2 VCP VPS11 VPS33A WARS2 WDR45 WHSC1 WWOX ZEB2 ZFYVE26 ZNF335

Neuromuscular Junction Disorders

Myasthenia Gravis

Anti-Achr (BC Neuro or Dynacare)
Anti-Achr Cell Based Assay for double seronegative (BC Neuro)
Anti-LRP4 (BC Neuro)
Anti-Musk (BC Neuro)

Lambert Eaton Myasthenic Syndrome

Anti-VGCC (BC Neuro)

Muscle Diseases and Channelopathies

Inflammatory

Myositis panel (Mitogen, St. Joseph's Hospital)
Anti-HMG Coa Reductase (St. Joseph's Hospital)
Inclusion Body Myositis (St. Joseph's Hospital)

Genetic

Muscular dystrophy panel (Invitae)

Dystrophinopathy: DMD
Limb-girdle muscular dystrophy (37 genes): NO5 CAPN3 CAV3 DAG1 DES DMD DNAJB6 DYSF FKRP FKTN GAA GMPPB GOSR2 HNRNPDL ISPD LAMA2 LMNA MYOT PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 SGCA SGCB SGCD SGCG SMCHD1 TCAP TK2 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TTN
Comprehensive muscular dystrophy (52 genes): ANO5 B3GALNT2 B4GAT1 CAPN3 CAV3 CHKB COL12A1 COL6A1 COL6A2 COL6A3 DAG1 DES DMD DNAJB6 DPM1 DPM2 DPM3 DYSF EMD FHL1 FKRP FKTN GAA GMPPB GOSR2 HNRNPDL ISPD ITGA7 LAMA2 LARGE1 LMNA MYOT PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SGCA SGCB SGCD SGCG SMCHD1 TCAP TK2 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TTN
Comprehensive neuromuscualr panel (131 genes): ACTA1 ADSSL1 AGRN ALG14 ALG2 AMPD1 ANO5 ATP2A1 B3GALNT2 B4GAT1 BAG3 BIN1 CACNA1S CAPN3 CASQ1 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CNTN1 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRYAB DAG1 DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM1 DPM2 DPM3 DYSF EMD FHL1 FKBP14 FKRP FKTN FLNC GAA GFPT1 GMPPB GNE GOSR2 GYG1 GYS1 HACD1 HNRNPA2B1 HNRNPDL ISCU ISPD ITGA7 KBTBD13 KCNJ2 KLHL40 KLHL41 LAMA2 LAMP2 LARGE1 LDB3 LMNA LMOD3 MAP3K20 MATR3 MEGF10 MICU1 MTM1 MUSK MYH2 MYH7 MYL2 MYO18B MYOT MYPN NEB ORAI1 PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL PYROXD1 RAPSN RXYLT1 RYR1 SCN4A SELENON SGCA SGCB SGCD SGCG SLC18A3 SLC5A7 SMCHD1 SMN1, SMN2 SPEG SQSTM1 STAC3 STIM1 SYT2 TAZ TCAP TIA1 TK2 TNNT1 TNPO3 TOR1AIP1 TPM2 TPM3 TRAPPC11 TRIM32 TTN VAMP1 VCP VMA21

Dystrophynopathy (SickKids)
Congenital Muscular Dystrophy (SickKids)
FSHD (CHEO)
Medium chain Acyl CoA Dehydrogenase (London Health Sciences)
Mitochondrial DNA analysis (Ontario Mitochondrial Laboratories)
Myotonic Dystrophy type 1 (CHEO)
Myotonic Dystrophy type 2 (CHEO)
OPMD (CHEO or North York General Hospital)
Pompe disease (CHEO)
Paramyotonia congenita (London Health Sciences)
Periodic paralysis panel ATP1A2 CACNA1S KCNJ2 MCM3AP RYR1 SCN4A (Invitae)

Calculations should be re-checked. These calculations are intended for educational purposes and to support clinical decision making and therefore need to be interpreted in the correct clinical context. They should never guide patient care and replace clinical judgment. Click here to view the full disclaimer.

General Principles:

1. Effect of distance

2. Effect of temperature

Late Responses:

1. F-estimate

2. H-reflex latency

Comparison Studies:

1. Median-to-ulnar

2. 1. Median and ulnar mixed palm-to-wrist

   2. Lumbrical - Interossei comparison study

   3. Median and ulnar digit 4

2. Median-to-radial digit 1 comparison

3. Combined sensory index

Neuropathy:

1. Criteria for demyelination

2. Terminal latency index

3. Sural/radial amplitude ratio

4. Modified Erasmus GBS outcome score

5. Neurogenic Orthostatic Hypotension

Motor Neuron Disease:

1. Modified el-Escorial criteria

2. Awaji criteria

3. Respiratory diagnostic tool for noninvasive ventilation

Neuromuscular Junction:

1. MG-QOLr score

2. Quantitative MG score

3. Myasthenia Gravis Impairment Index

4. LEMS malignancy score (Delta-p)

5. Thymectomy candidate

Myopathy:

1. Jain foundation LGMD assistant

2. Immune-mediated necrotizing myopathy probability calculator - Drs. Shelley and Klein, Mayo Clinic