RGDs registry under the 'Neuromuscular disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Duchenne muscular dystrophy |
•Severe dystrophinopathy, Duchenne type •DMD •Muscular dystrophy, pseudohypertrophic progressive, Duchenne type |
Muscular dystrophies |
DMD dystrophin |
PubMed | Reports |
| 2 | Spinal muscular atrophy 1 |
•Werdnig-Hoffmann disease •Muscular atrophy, infantile •SMA I |
Motor neuron disorder |
SMN1 survival of motor neuron 1, telomeric SMN2 survival of motor neuron 2, centromeric |
PubMed | Reports |
| 3 | Paramyotonia congenita of Von Eulenburg |
•Myotonia congenita •Thomsen and Becker disease •Eulenburg disease |
Skeletal muscle disorders |
SCN4A sodium voltage-gated channel alpha subunit 4 |
PubMed | Reports |
| 4 | Motor neurone disease | Motor neuron disorder |
C9orf72 C9orf72-SMCR8 complex subunit TARDBP TAR DNA binding protein |
PubMed | Reports | |
| 5 | Episodic ataxia | Movement disorders |
CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 CACNA1A calcium voltage-gated channel subunit alpha1 A SLC1A3 solute carrier family 1 member 3 KCNA1 potassium voltage-gated channel subfamily A member 1 SCN2A sodium voltage-gated channel alpha subunit 2 |
PubMed | Reports | |
| 6 | Congenital myopathy | Skeletal muscle disorders |
TPM3 tropomyosin 3 TPM2 tropomyosin 2 ACTA1 actin alpha 1, skeletal muscle MEGF10 multiple EGF like domains 10 MYH7 myosin heavy chain 7 RYR1 ryanodine receptor 1 HACD1 3-hydroxyacyl-CoA dehydratase 1 SELENON selenoprotein N CCDC78 coiled-coil domain containing 78 MYL1 myosin light chain 1 CACNA1S calcium voltage-gated channel subunit alpha1 S MYL2 myosin light chain 2 TNNC2 troponin C2, fast skeletal type DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 SCN4A sodium voltage-gated channel alpha subunit 4 ASCC3 activating signal cointegrator 1 complex subunit 3 |
PubMed | Reports | |
| 7 | Qualitative or quantitative defects of dysferlin |
•Dysferlinopathy |
Muscular dystrophies |
DYSF dysferlin |
PubMed | Reports |
| 8 | Charcot-Marie-Tooth disease |
•Charcot Marie Tooth |
Peripheral neuropathy |
FGD4 FYVE, RhoGEF and PH domain containing 4 MED25 mediator complex subunit 25 FIG4 FIG4 phosphoinositide 5-phosphatase MFN2 mitofusin 2 SH3TC2 SH3 domain and tetratricopeptide repeats 2 HSPB8 heat shock protein family B (small) member 8 SBF2 SET binding factor 2 GDAP1 ganglioside induced differentiation associated protein 1 KIF1B kinesin family member 1B PRX periaxin TRPV4 transient receptor potential cation channel subfamily V member 4 NDRG1 N-myc downstream regulated 1 LITAF lipopolysaccharide induced TNF factor YARS1 tyrosyl-tRNA synthetase 1 MTMR2 myotubularin related protein 2 DNM2 dynamin 2 RAB7A RAB7A, member RAS oncogene family HSPB1 heat shock protein family B (small) member 1 KARS1 lysyl-tRNA synthetase 1 PMP22 peripheral myelin protein 22 IGHMBP2 immunoglobulin mu DNA binding protein 2 GARS1 glycyl-tRNA synthetase 1 PRPS1 phosphoribosyl pyrophosphate synthetase 1 GJB1 gap junction protein beta 1 NEFL neurofilament light chain MPZ myelin protein zero LMNA lamin A/C EGR2 early growth response 2 RETREG1 reticulophagy regulator 1 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 INF2 inverted formin 2 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 AIFM1 apoptosis inducing factor mitochondria associated 1 HK1 hexokinase 1 GNB4 G protein subunit beta 4 SBF1 SET binding factor 1 PDK3 pyruvate dehydrogenase kinase 3 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 TRIM2 tripartite motif containing 2 COX6A1 cytochrome c oxidase subunit 6A1 GAN gigaxonin ARHGEF10 Rho guanine nucleotide exchange factor 10 MARS1 methionyl-tRNA synthetase 1 NAGLU N-acetyl-alpha-glucosaminidase DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 SPG11 SPG11 vesicle trafficking associated, spatacsin SURF1 SURF1 cytochrome c oxidase assembly factor VCP valosin containing protein MORC2 MORC family CW-type zinc finger 2 NEFH neurofilament heavy chain BSCL2 BSCL2 lipid droplet biogenesis associated, seipin MME membrane metalloendopeptidase ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 NTRK1 neurotrophic receptor tyrosine kinase 1 PMP2 peripheral myelin protein 2 MPV17 mitochondrial inner membrane protein MPV17 HINT1 histidine triad nucleotide binding protein 1 WNK1 WNK lysine deficient protein kinase 1 SPTLC2 serine palmitoyltransferase long chain base subunit 2 DNMT1 DNA methyltransferase 1 SEPTIN9 septin 9 CADM3 cell adhesion molecule 3 HSPB3 heat shock protein family B (small) member 3 KIF5A kinesin family member 5A SLC5A7 solute carrier family 5 member 7 JAG1 jagged canonical Notch ligand 1 POLR3B RNA polymerase III subunit B FBLN5 fibulin 5 SLC12A6 solute carrier family 12 member 6 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 DHX9 DExH-box helicase 9 |
PubMed | Reports |
| 9 | Amyotrophic lateral sclerosis | Motor neuron disorders |
FIG4 FIG4 phosphoinositide 5-phosphatase SETX senataxin ALS2 alsin Rho guanine nucleotide exchange factor ALS2 VAPB VAMP associated protein B and C TRPM7 transient receptor potential cation channel subfamily M member 7 TARDBP TAR DNA binding protein OPTN optineurin DCTN1 dynactin subunit 1 PRPH peripherin MATR3 matrin 3 SOD1 superoxide dismutase 1 FUS FUS RNA binding protein ANG angiogenin UBQLN2 ubiquilin 2 SIGMAR1 sigma non-opioid intracellular receptor 1 PFN1 profilin 1 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 TUBA4A tubulin alpha 4a NEK1 NIMA related kinase 1 ANXA11 annexin A11 KIF5A kinesin family member 5A SPG11 SPG11 vesicle trafficking associated, spatacsin ERBB4 erb-b2 receptor tyrosine kinase 4 PARK7 Parkinsonism associated deglycase DAO D-amino acid oxidase CHRNA3 cholinergic receptor nicotinic alpha 3 subunit SS18L1 SS18L1 subunit of BAF chromatin remodeling complex EWSR1 EWS RNA binding protein 1 NEFH neurofilament heavy chain VCP valosin containing protein TIA1 TIA1 cytotoxic granule associated RNA binding protein SPTLC1 serine palmitoyltransferase long chain base subunit 1 C9orf72 C9orf72-SMCR8 complex subunit UNC13A unc-13 homolog A |
PubMed | Reports | |
| 10 | Arthrogryposis multiplex congenita |
SYNE1 spectrin repeat containing nuclear envelope protein 1 NEB nebulin ADGRG6 adhesion G protein-coupled receptor G6 TNNI2 troponin I2, fast skeletal type TNNT3 troponin T3, fast skeletal type TPM2 tropomyosin 2 MYH3 myosin heavy chain 3 LGI4 leucine rich repeat LGI family member 4 RYR1 ryanodine receptor 1 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 VPS13D vacuolar protein sorting 13 homolog D ACTA1 actin alpha 1, skeletal muscle CHRND cholinergic receptor nicotinic delta subunit CHRNG cholinergic receptor nicotinic gamma subunit BLTP1 bridge-like lipid transfer protein family member 1 ALDH5A1 aldehyde dehydrogenase 5 family member A1 ASAH1 N-acylsphingosine amidohydrolase 1 RAPSN receptor associated protein of the synapse SCN8A sodium voltage-gated channel alpha subunit 8 NALCN sodium leak channel, non-selective DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ADSS1 adenylosuccinate synthase 1 EARS2 glutamyl-tRNA synthetase 2, mitochondrial CNTNAP1 contactin associated protein 1 SCN4A sodium voltage-gated channel alpha subunit 4 PIEZO2 piezo type mechanosensitive ion channel component 2 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 SCYL2 SCY1 like pseudokinase 2 TOR1A torsin family 1 member A SENP7 SUMO specific peptidase 7 |
PubMed | Reports | ||
| 11 | Early-onset generalized limb-onset dystonia |
•Early-onset primary dystonia •Early-onset primary dystonia •Early-onset primary dystonia •Early onset primary dystonia |
Movement disorder |
TOR1A torsin family 1 member A |
PubMed | Reports |
| 12 | Facioscapulohumeral muscular dystrophy |
•Landouzy-Dejerine dystrophy •FSH dystrophy |
Muscular dystrophies |
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 DNMT3B DNA methyltransferase 3 beta LRIF1 ligand dependent nuclear receptor interacting factor 1 |
PubMed | Reports |
| 13 | GNE myopathy | Skeletal muscle disorders |
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
PubMed | Reports | |
| 14 | Hirayama disease | Motor neuron disorder |
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 CEP126 centrosomal protein 126 |
PubMed | Reports | |
| 15 | Limb-girdle muscular dystrophy |
•LGMD |
Muscular dystrophies |
DYSF dysferlin ANO5 anoctamin 5 CAPN3 calpain 3 TTN titin SGCB sarcoglycan beta SGCD sarcoglycan delta MYOT myotilin POMT1 protein O-mannosyltransferase 1 SGCG sarcoglycan gamma POMK protein O-mannose kinase |
PubMed | Reports |
| 16 | Myasthenia gravis |
•Acquired myasthenia •Autoimmune myasthenia gravis |
CHAT choline O-acetyltransferase |
PubMed | Reports | |
| 17 | Pontocerebellar hypoplasia type 1 | Motor neuron disorders |
VRK1 VRK serine/threonine kinase 1 EXOSC3 exosome component 3 CLP1 cleavage factor polyribonucleotide kinase subunit 1 CHMP1A charged multivesicular body protein 1A |
PubMed | Reports | |
| 18 | Steinert myotonic dystrophy syndrome |
•Steinert disease •Myotonic dystrophy 1 •Steinert myotonic dystrophy •Dystrophia myotonica •Myotonic dystrophy type 1 |
Muscular dystrophies |
DMPK DM1 protein kinase |
PubMed | Reports |
| 19 | Myotonic dystrophy type 2 |
•Proximal myotonic myopathy •Myotonic dystrophy 2 •Proximal myotonic dystrophy •Ricker disease •Ricker syndrome |
Muscular dystrophies |
CNBP CCHC-type zinc finger nucleic acid binding protein |
PubMed | Reports |
| 20 | Emery-Dreifuss muscular dystrophy |
•Humeroperoneal neuromuscular disease |
Muscular dystrophies |
SYNE1 spectrin repeat containing nuclear envelope protein 1 FHL1 four and a half LIM domains 1 LMNA lamin A/C TMEM43 transmembrane protein 43 SYNE2 spectrin repeat containing nuclear envelope protein 2 SUN1 Sad1 and UNC84 domain containing 1 SUN2 Sad1 and UNC84 domain containing 2 EMD emerin |
PubMed | Reports |
| 21 | Oculopharyngeal muscular dystrophy |
•OPMD |
Muscular dystrophies |
PABPN1 poly(A) binding protein nuclear 1 ANXA11 annexin A11 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 |
PubMed | Reports |
| 22 | Guillain-Barre syndrome |
•GBS •Guillain-Barré syndrome |
Peripheral neuropathy |
PMP22 peripheral myelin protein 22 |
PubMed | Reports |
| 23 | Chronic inflammatory demyelinating polyneuropathy |
•CIDP •Chronic inflammatory demyelinating polyradiculoneuropathy |
Peripheral neuropathy |
PMP22 peripheral myelin protein 22 |
PubMed | Reports |
| 24 | Bethlem myopathy |
•Bethlem myopathy 1 •Collagen 6-related myopathy •Ullrich congenital muscular dystrophy 1 |
Muscular dystrophies |
COL6A3 collagen type VI alpha 3 chain COL6A2 collagen type VI alpha 2 chain COL6A1 collagen type VI alpha 1 chain COL12A1 collagen type XII alpha 1 chain |
PubMed | Reports |
| 25 | Central core myopathy |
•Central core disease •Muscle core disease •Shy-Magee syndrome |
Muscle tissue disorders |
RYR1 ryanodine receptor 1 |
PubMed | Reports |
| 26 | Severe congenital nemaline myopathy | Muscle tissue disorders |
KLHL40 kelch like family member 40 |
PubMed | Reports | |
| 27 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
•Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome •Sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) |
Peripheral neuropathy |
POLG DNA polymerase gamma, catalytic subunit TWNK twinkle mtDNA helicase |
PubMed | Reports |
| 28 | Proximal myopathy with extrapyramidal signs |
•Myopathy with extrapyramidal signs |
Movement disorder |
MICU1 mitochondrial calcium uptake 1 |
PubMed | Reports |
| 29 | Muscle eye brain disease |
•Santavuori congenital muscular dystrophy •Muscle-eye-brain disease |
Muscular dystrophies |
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
PubMed | Reports |
| 30 | Monomelic amyotrophy |
•Hirayama disease •Spinal muscular atrophy juvenile nonprogressive •Juvenile muscular atrophy of the distal upper limb |
Motor neuron disorders |
SLIT1 slit guidance ligand 1 |
PubMed | Reports |
| 31 | Miyoshi muscular dystrophy |
•Miyoshi myopathy •Dysferlinopathy •Miyoshi distal myopathy |
Muscular dystrophies |
ANO5 anoctamin 5 DYSF dysferlin |
PubMed | Reports |
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