Myotonic dystrophy type 1

Summary

Myotonic dystrophy type 1 (MONDO:0008056) is a disease caused by DMPK (GenCC Definitive), with 2 cohort genes and 75 clinical trials. Top therapeutic interventions include pitolisant, lamotrigine, and mecasermin rinfabate.

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Causal gene: DMPK (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 218
• Phenotypes (HPO): 108
• Clinical trials: 75

Clinical features

Epidemiology

Prevalence records

16 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	5	Europe	Validated
Annual incidence	1-9 / 1 000 000	0.2	Serbia	Validated
Point prevalence	1-5 / 10 000	10.4	United Kingdom	Validated
Point prevalence	1-9 / 100 000	7.9	Iceland	Validated
Point prevalence	1-9 / 100 000	5.3	Serbia	Validated
Point prevalence	1-9 / 100 000	9.13	Japan	Validated
Point prevalence	1-9 / 1 000 000	0.46	Taiwan, Province of China	Validated
Point prevalence	1-5 / 10 000	14.3	South Africa	Validated
Point prevalence	6-9 / 10 000	76.3	Specific population	Validated
Point prevalence	>1 / 1000	210.5	Specific population	Validated
Point prevalence	1-9 / 100 000	9.31	Italy	Validated
Point prevalence	1-5 / 10 000	11.95	Ireland	Validated
Point prevalence	1-5 / 10 000	20	Specific population	Validated
Point prevalence	1-9 / 100 000	5.7	Specific population	Validated
Point prevalence	1-5 / 10 000	18.1	Croatia	Validated
Point prevalence	1-5 / 10 000	12.5	Worldwide	Not yet validated

Signs & symptoms

Clinical features (HPO)

108 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0001324	Muscle weakness	Obligate (100%)
HP:0001262	Excessive daytime somnolence	Very frequent (80-99%)
HP:0002460	Distal muscle weakness	Very frequent (80-99%)
HP:0003740	Myotonia with warm-up phenomenon	Very frequent (80-99%)
HP:0007787	Posterior subcapsular cataract	Very frequent (80-99%)
HP:0031546	Cardiac conduction abnormality	Very frequent (80-99%)
HP:0100284	EMG: myotonic discharges	Very frequent (80-99%)
HP:0003326	Myalgia	Frequent (30-79%)
HP:0005110	Atrial fibrillation	Frequent (30-79%)
HP:0006677	Prolonged QRS complex	Frequent (30-79%)
HP:0007010	Poor fine motor coordination	Frequent (30-79%)
HP:0009027	Foot dorsiflexor weakness	Frequent (30-79%)
HP:0012248	Prolonged PR interval	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0030192	Fatigable weakness of bulbar muscles	Frequent (30-79%)
HP:0030319	Weakness of facial musculature	Frequent (30-79%)
HP:0031466	Impairment in personality functioning	Frequent (30-79%)
HP:0100543	Cognitive impairment	Frequent (30-79%)
HP:0100786	Hypersomnia	Frequent (30-79%)
HP:0410011	Abnormality of masticatory muscle	Frequent (30-79%)
HP:0000708	Atypical behavior	Frequent (30-79%)
HP:0001288	Gait disturbance	Frequent (30-79%)
HP:0002494	Abnormal rapid eye movement sleep	Frequent (30-79%)
HP:0002870	Obstructive sleep apnea	Frequent (30-79%)
HP:0000026	Male hypogonadism	Occasional (5-29%)
HP:0000029	Testicular atrophy	Occasional (5-29%)
HP:0000144	Decreased fertility	Occasional (5-29%)
HP:0000467	Neck muscle weakness	Occasional (5-29%)
HP:0000483	Astigmatism	Occasional (5-29%)
HP:0000540	Hypermetropia	Occasional (5-29%)
HP:0000602	Ophthalmoplegia	Occasional (5-29%)
HP:0000712	Emotional lability	Occasional (5-29%)
HP:0000716	Depression	Occasional (5-29%)
HP:0000729	Autistic behavior	Occasional (5-29%)
HP:0000736	Short attention span	Occasional (5-29%)
HP:0000739	Anxiety	Occasional (5-29%)
HP:0000802	Impotence	Occasional (5-29%)
HP:0000815	Hypergonadotropic hypogonadism	Occasional (5-29%)
HP:0000819	Diabetes mellitus	Occasional (5-29%)
HP:0000842	Hyperinsulinemia	Occasional (5-29%)
HP:0000855	Insulin resistance	Occasional (5-29%)
HP:0000867	Secondary hyperparathyroidism	Occasional (5-29%)
HP:0001081	Cholelithiasis	Occasional (5-29%)
HP:0001256	Intellectual disability, mild	Occasional (5-29%)
HP:0001260	Dysarthria	Occasional (5-29%)
HP:0001263	Global developmental delay	Occasional (5-29%)
HP:0001268	Mental deterioration	Occasional (5-29%)
HP:0001319	Neonatal hypotonia	Occasional (5-29%)
HP:0001328	Specific learning disability	Occasional (5-29%)
HP:0001349	Facial diplegia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	myotonic dystrophy type 1
Mondo ID	MONDO:0008056
OMIM	160900
Orphanet	273
DOID	DOID:11722
ICD-11	557405480
NCIT	C84679
UMLS	C3250443
MedGen	886881
GARD	0008310
NORD	1075
Is cancer (heuristic)	no

Also known as: DM1 · DMPK myotonic dystrophy · dystrophia myotonica · dystrophia myotonica type 1 · MD1 · myotonic dystrophy 1 · myotonic dystrophy caused by mutation in DMPK · myotonic dystrophy type 1 · Steinert disease · Steinert myotonic dystrophy syndrome · Steinert syndrome · Steinert’s disease

Data availability: 218 ClinVar variants · 3 GenCC gene-disease records.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › myopathy › muscular dystrophy › progressive muscular dystrophy › myotonic dystrophy › myotonic dystrophy type 1

Related subtypes (7): myotonic cataract, myotonic dystrophy type 2, congenital myotonic dystrophy, childhood-onset Steinert myotonic dystrophy, juvenile-onset Steinert myotonic dystrophy, adult-onset Steinert myotonic dystrophy, late-onset Steinert myotonic dystrophy

Subtypes (1): congenital-onset Steinert myotonic dystrophy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

218 retrieved; paginated sample, class counts are floors:

187 pathogenic, 16 benign, 12 uncertain significance, 1 likely benign, 1 other, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
65631	Single allele		Pathogenic	no assertion criteria provided
187908	NM_004409.5(DMPK):c.*224CTG[103]	DM1-AS	Pathogenic	criteria provided, single submitter
187909	NM_004409.5(DMPK):c.*224CTG[107]	DM1-AS	Pathogenic	no assertion criteria provided
187910	NM_004409.5(DMPK):c.*224CTG[1080]	DM1-AS	Pathogenic	no assertion criteria provided
187911	NM_004409.5(DMPK):c.*224CTG[1140]	DM1-AS	Pathogenic	no assertion criteria provided
187912	NM_004409.5(DMPK):c.*224CTG[1142]	DM1-AS	Pathogenic	no assertion criteria provided
187913	NM_004409.5(DMPK):c.*224CTG[1189]	DM1-AS	Pathogenic	no assertion criteria provided
187914	NM_004409.5(DMPK):c.*224CTG[122]	DM1-AS	Pathogenic	no assertion criteria provided
187915	NM_004409.5(DMPK):c.*224CTG[123]	DM1-AS	Pathogenic	no assertion criteria provided
187916	NM_004409.5(DMPK):c.*224CTG[1236]	DM1-AS	Pathogenic	no assertion criteria provided
187917	NM_004409.5(DMPK):c.*224CTG[124]	DM1-AS	Pathogenic	no assertion criteria provided
187918	NM_004409.5(DMPK):c.*224CTG[127]	DM1-AS	Pathogenic	no assertion criteria provided
187919	NM_004409.5(DMPK):c.*224CTG[131]	DM1-AS	Pathogenic	no assertion criteria provided
187921	NM_004409.5(DMPK):c.*224CTG[134]	DM1-AS	Pathogenic	no assertion criteria provided
187923	NM_004409.5(DMPK):c.*224CTG[142]	DM1-AS	Pathogenic	no assertion criteria provided
187925	NM_004409.4(DMPK):c.*224CTG[1502]	DM1-AS	Pathogenic	no assertion criteria provided
187926	NM_004409.5(DMPK):c.*224CTG[158]	DM1-AS	Pathogenic	no assertion criteria provided
187927	NM_004409.5(DMPK):c.*224CTG[160]	DM1-AS	Pathogenic	no assertion criteria provided
187928	NM_004409.5(DMPK):c.*224CTG[168]	DM1-AS	Pathogenic	no assertion criteria provided
187929	NM_004409.4(DMPK):c.*224CTG[1681]	DM1-AS	Pathogenic	no assertion criteria provided
187930	NM_004409.5(DMPK):c.*224CTG[169]	DM1-AS	Pathogenic	no assertion criteria provided
187931	NM_004409.5(DMPK):c.*224CTG[175]	DM1-AS	Pathogenic	no assertion criteria provided
187932	NM_004409.5(DMPK):c.*224CTG[181]	DM1-AS	Pathogenic	no assertion criteria provided
187933	NM_004409.5(DMPK):c.*224CTG[182]	DM1-AS	Pathogenic	no assertion criteria provided
187934	NM_004409.5(DMPK):c.*224CTG[194]	DM1-AS	Pathogenic	no assertion criteria provided
187935	NM_004409.5(DMPK):c.*224CTG[195]	DM1-AS	Pathogenic	no assertion criteria provided
187936	NM_004409.5(DMPK):c.*224CTG[197]	DM1-AS	Pathogenic	no assertion criteria provided
187938	NM_004409.5(DMPK):c.*224CTG[216]	DM1-AS	Pathogenic	no assertion criteria provided
187939	NM_004409.5(DMPK):c.*224CTG[225]	DM1-AS	Pathogenic	no assertion criteria provided
187940	NM_004409.5(DMPK):c.*224CTG[229]	DM1-AS	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
DMPK	Definitive	Autosomal dominant	myotonic dystrophy type 1	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
DMPK	Orphanet:589821	Congenital-onset Steinert myotonic dystrophy
DMPK	Orphanet:589824	Childhood-onset Steinert myotonic dystrophy
DMPK	Orphanet:589827	Juvenile-onset Steinert myotonic dystrophy
DMPK	Orphanet:589830	Adult-onset Steinert myotonic dystrophy
DMPK	Orphanet:589833	Late-onset Steinert myotonic dystrophy

Cohort genes → proteins

2 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
DMPK	HGNC:2933	ENSG00000104936	Q09013	Myotonin-protein kinase	gencc,clinvar
DM1-AS	HGNC:53125	ENSG00000267395		DM1 locus antisense RNA	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DMPK	Myotonin-protein kinase	Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	1	13.9×	0.142
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
DMPK	Kinase	yes	2.7.11.1	Prot_kinase_dom, AGC-kinase_C, Ser/Thr_kinase_AS
DM1-AS	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
apex of heart	1
mucosa of stomach	1
right coronary artery	1
left ovary	1
right lobe of thyroid gland	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DMPK	246	broad	marker	apex of heart, right coronary artery, mucosa of stomach
DM1-AS	157	broad	yes	right uterine tube, left ovary, right lobe of thyroid gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DMPK	2,467
DM1-AS	0

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DMPK	Q09013	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 2 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Ion homeostasis	1	203.9×	0.005	DMPK

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction	1	16852.0×	4e-04	DMPK
muscle cell apoptotic process	1	8426.0×	4e-04	DMPK
regulation of skeletal muscle contraction by calcium ion signaling	1	8426.0×	4e-04	DMPK
regulation of synapse structural plasticity	1	4213.0×	6e-04	DMPK
regulation of myotube differentiation	1	3370.4×	6e-04	DMPK
nuclear envelope organization	1	991.3×	0.002	DMPK
regulation of sodium ion transport	1	936.2×	0.002	DMPK
regulation of heart contraction	1	495.6×	0.003	DMPK
intracellular calcium ion homeostasis	1	145.3×	0.008	DMPK
protein phosphorylation	1	68.0×	0.015	DMPK

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 1

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
DMPK	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
DMPK	20	4
DM1-AS	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FEDRATINIB	4	DMPK
RUXOLITINIB	4	DMPK
TOFACITINIB CITRATE	4	DMPK
TOFACITINIB	4	DMPK
BOSUTINIB	4	DMPK
DASATINIB	4	DMPK
ERLOTINIB	4	DMPK
CRIZOTINIB	4	DMPK
MIDOSTAURIN	4	DMPK
GEFITINIB	4	DMPK
ENZASTAURIN	3	DMPK
CANERTINIB	3	DMPK
ALVOCIDIB	3	DMPK
LESTAURTINIB	3	DMPK
RUBOXISTAURIN	3	DMPK
RG-547	2	DMPK
AT-7519	2	DMPK
BI-2536	2	DMPK
PELITINIB	2	DMPK
KW-2449	1	DMPK

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
DMPK	210	Binding:210

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
DMPK	2.7.11.1	non-specific serine/threonine protein kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
DMPK	210

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

20 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
FEDRATINIB	4	DMPK
RUXOLITINIB	4	DMPK
TOFACITINIB CITRATE	4	DMPK
TOFACITINIB	4	DMPK
BOSUTINIB	4	DMPK
DASATINIB	4	DMPK
ERLOTINIB	4	DMPK
CRIZOTINIB	4	DMPK
MIDOSTAURIN	4	DMPK
GEFITINIB	4	DMPK
ENZASTAURIN	3	DMPK
CANERTINIB	3	DMPK
ALVOCIDIB	3	DMPK
LESTAURTINIB	3	DMPK
RUBOXISTAURIN	3	DMPK
RG-547	2	DMPK
AT-7519	2	DMPK
BI-2536	2	DMPK
PELITINIB	2	DMPK
KW-2449	1	DMPK

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	DMPK
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	DM1-AS

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
DM1-AS	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 75.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	53
PHASE2	7
PHASE3	6
PHASE1/PHASE2	6
PHASE1	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05532813	PHASE3	RECRUITING	Evaluation of the Efficacy and Safety of Metformin in the Myotonic Dystrophy Type 1 (Steinert’s Disease)
NCT06411288	PHASE3	ACTIVE_NOT_RECRUITING	Global Study of Del-desiran for the Treatment of DM1
NCT07008469	PHASE3	ENROLLING_BY_INVITATION	Global Open-Label Extension Study of Del-desiran for the Treatment of DM1
NCT07486934	PHASE3	RECRUITING	Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1
NCT01939561	PHASE3	COMPLETED	Lamotrigine as Treatment of Myotonia
NCT05848830	PHASE3	UNKNOWN	Home-based Training and Supplementation in DM1 Patients
NCT05481879	PHASE1/PHASE2	RECRUITING	Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-101 in Participants With Myotonic Dystrophy Type 1
NCT06138743	PHASE1/PHASE2	RECRUITING	Study of ARO-DM1 in Subjects With Type 1 Myotonic Dystrophy
NCT06185764	PHASE1/PHASE2	RECRUITING	A Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1)
NCT06300307	PHASE1/PHASE2	RECRUITING	Study of ATX-01 in Participants With DM1
NCT06667453	PHASE2	RECRUITING	A Clinical Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1
NCT06926621	PHASE2	ENROLLING_BY_INVITATION	A Study of Long-term Safety and Efficacy of VX-670 in Participants With Myotonic Dystrophy Type I
NCT07220603	PHASE2	RECRUITING	An Open-Label Extension Study of PGN-EDODM1 in People With Myotonic Dystrophy Type 1 (FREEDOM-OLE)
NCT00577577	PHASE2	COMPLETED	Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1
NCT02312011	PHASE1/PHASE2	COMPLETED	A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1
NCT02858908	PHASE2	COMPLETED	Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy
NCT04886518	PHASE2	COMPLETED	Safety and Efficacy of Pitolisant on Excessive Daytime Sleepiness and Other Non-Muscular Symptoms in Patients With Myotonic Dystrophy Type 1
NCT05027269	PHASE1/PHASE2	COMPLETED	Study of AOC 1001 in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT05479981	PHASE2	COMPLETED	Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT07075965	PHASE1	NOT_YET_RECRUITING	Calcium Channel Blocker in Myotonic Dystrophy Type 1
NCT02251457	PHASE1	COMPLETED	Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1
NCT06204809	PHASE1	COMPLETED	Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1
NCT00082108	Not specified	RECRUITING	Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
NCT02398786	Not specified	RECRUITING	Myotonic Dystrophy Family Registry
NCT03981575	Not specified	RECRUITING	Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
NCT04656210	Not specified	ACTIVE_NOT_RECRUITING	Myotonic Dystrophy - Vascular and Cognition
NCT05072288	Not specified	ACTIVE_NOT_RECRUITING	A Remote Physical Activity Program in the Population Suffering from Type 1 Myotonic Dystrophy
NCT05854433	Not specified	RECRUITING	Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
NCT05982119	Not specified	RECRUITING	Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study
NCT06075693	Not specified	RECRUITING	Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
NCT06101940	Not specified	ENROLLING_BY_INVITATION	A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China
NCT06316778	Not specified	RECRUITING	Pelvic Floor Muscle Training for Women with Myotonic Dystrophy
NCT06596850	Not specified	NOT_YET_RECRUITING	Wheelchair Skills Training for People with ARSACS and DM1
NCT06708468	Not specified	RECRUITING	Personalized Training for People With Rare Neuromuscular Disorders
NCT06809049	Not specified	RECRUITING	Music Intervention for Brain-Heart Disease in Myotonic Dystrophy Type 1 (DM1)
NCT06813443	Not specified	RECRUITING	Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation
NCT06979024	Not specified	ENROLLING_BY_INVITATION	A Registered Observational Cohort Study of Myotonic Dystrophy Type 1
NCT07072676	Not specified	ENROLLING_BY_INVITATION	The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.
NCT07136844	Not specified	RECRUITING	Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
NCT07385443	Not specified	RECRUITING	The Spanish National Registry for Myotonic Dystrophy Type 1

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PITOLISANT	4	3
LAMOTRIGINE	4	1
MECASERMIN RINFABATE	4	1
RANOLAZINE	4	1
TIDEGLUSIB	2	1
ZELECIMENT BASIVARSEN	2	1