Rare diseases that primarily involve the neuromuscular system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 587 conditions · last built 2026-08-30.
No conditions match that name. Try fewer letters, or browse all conditions.
A63
- Acetazolamide-Responsive Myotonia
- Acquired Idiopathic Inflammatory Myopathy
- Actin Accumulation Myopathy
- Acute Quadriplegic Myopathy
- Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
- Adult-Onset Distal Myopathy Due To VCP Mutation
- Adult-Onset Myasthenia Gravis
- Adult-Onset Nemaline Myopathy
- Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant
- Adult-Onset Steinert Myotonic Dystrophy
- Amyotonia Congenita
- Arthrogryposis Due To Muscular Dystrophy
- Asymptomatic Hyperckemia-Myalgia-Rhabdomyolysis Syndrome
- Autosomal Dominant Centronuclear Myopathy
- Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To DGAT2 Mutation
- Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To KIF5A Mutation
- Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To TFG Mutation
- Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
- Autosomal Dominant Charcot-Marie-Tooth Disease Type 2M
- Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W
- Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures
- Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy Without Contractures
- Autosomal Dominant Distal Myopathy
- Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
- Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease
- Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease With Neuropathic Pain
- Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1D (DNAJB6)
- Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1E (DES)
- Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1F
- Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1G
- Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H
- Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
- Autosomal Dominant Nebulin-Related Myopathy
- Autosomal Dominant Optic Atrophy Plus Syndrome
- Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
- Autosomal Recessive Axonal Neuropathy With Neuromyotonia
- Autosomal Recessive Centronuclear Myopathy
- Autosomal Recessive Distal Spinal Muscular Atrophy 1
- Autosomal Recessive Distal Spinal Muscular Atrophy 2
- Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
- Autosomal Recessive Limb-Girdle Muscular Dystrophy
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2D
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2E
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2G
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2L
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2M
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2P
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R1
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2T
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2U
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2W
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type R18
B11
C173
- Cap Myopathy
- Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1
- Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2
- Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 3
- Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 4
- Central Core Myopathy
- Centronuclear Myopathy
- Charcot-Marie-Tooth Disease
- Charcot-Marie-Tooth Disease Axonal Type 2C
- Charcot-Marie-Tooth Disease Axonal Type 2CC
- Charcot-Marie-Tooth Disease Axonal Type 2F
- Charcot-Marie-Tooth Disease Axonal Type 2H
- Charcot-Marie-Tooth Disease Axonal Type 2K
- Charcot-Marie-Tooth Disease Axonal Type 2L
- Charcot-Marie-Tooth Disease Axonal Type 2N
- Charcot-Marie-Tooth Disease Axonal Type 2O
- Charcot-Marie-Tooth Disease Axonal Type 2P
- Charcot-Marie-Tooth Disease Axonal Type 2Q
- Charcot-Marie-Tooth Disease Axonal Type 2S
- Charcot-Marie-Tooth Disease Axonal Type 2T
- Charcot-Marie-Tooth Disease Axonal Type 2U
- Charcot-Marie-Tooth Disease Axonal Type 2V
- Charcot-Marie-Tooth Disease Axonal Type 2X
- Charcot-Marie-Tooth Disease Axonal Type 2Z
- Charcot-Marie-Tooth Disease Dominant Intermediate B
- Charcot-Marie-Tooth Disease Dominant Intermediate C
- Charcot-Marie-Tooth Disease Dominant Intermediate D
- Charcot-Marie-Tooth Disease Dominant Intermediate E
- Charcot-Marie-Tooth Disease Dominant Intermediate F
- Charcot-Marie-Tooth Disease Recessive Intermediate A
- Charcot-Marie-Tooth Disease Recessive Intermediate B
- Charcot-Marie-Tooth Disease Recessive Intermediate C
- Charcot-Marie-Tooth Disease Recessive Intermediate D
- Charcot-Marie-Tooth Disease Type 1B
- Charcot-Marie-Tooth Disease Type 1C
- Charcot-Marie-Tooth Disease Type 1D
- Charcot-Marie-Tooth Disease Type 1E
- Charcot-Marie-Tooth Disease Type 1F
- Charcot-Marie-Tooth Disease Type 2
- Charcot-Marie-Tooth Disease Type 2A1
- Charcot-Marie-Tooth Disease Type 2A2
- Charcot-Marie-Tooth Disease Type 2B
- Charcot-Marie-Tooth Disease Type 2B1
- Charcot-Marie-Tooth Disease Type 2B2
- Charcot-Marie-Tooth Disease Type 2B5
- Charcot-Marie-Tooth Disease Type 2D
- Charcot-Marie-Tooth Disease Type 2E
- Charcot-Marie-Tooth Disease Type 2I
- Charcot-Marie-Tooth Disease Type 2J
- Charcot-Marie-Tooth Disease Type 2R
- Charcot-Marie-Tooth Disease Type 2T
- Charcot-Marie-Tooth Disease Type 2Y
- Charcot-Marie-Tooth Disease Type 4
- Charcot-Marie-Tooth Disease Type 4A
- Charcot-Marie-Tooth Disease Type 4B1
- Charcot-Marie-Tooth Disease Type 4B2
- Charcot-Marie-Tooth Disease Type 4B3
- Charcot-Marie-Tooth Disease Type 4C
- Charcot-Marie-Tooth Disease Type 4D
- Charcot-Marie-Tooth Disease Type 4E
- Charcot-Marie-Tooth Disease Type 4F
- Charcot-Marie-Tooth Disease Type 4G
- Charcot-Marie-Tooth Disease Type 4H
- Charcot-Marie-Tooth Disease Type 4J
- Charcot-Marie-Tooth Disease Type 4K
- Charcot-Marie-Tooth Disease Type 5
- Charcot-Marie-Tooth Disease Type X
- Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
- Charcot-Marie-Tooth Disease X-Linked Dominant 1
- Charcot-Marie-Tooth Disease X-Linked Dominant 6
- Charcot-Marie-Tooth Disease X-Linked Recessive 2
- Charcot-Marie-Tooth Disease X-Linked Recessive 3
- Charcot-Marie-Tooth Disease X-Linked Recessive 4
- Charcot-Marie-Tooth Disease X-Linked Recessive 5
- Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b;
- Charcot-Marie-Tooth Disease, Axonal, IIa 2II
- Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
- Charcot-Marie-Tooth Disease, Axonal, Type 2DD
- Charcot-Marie-Tooth Disease, Axonal, Type 2EE
- Charcot-Marie-Tooth Disease, Axonal, Type 2FF
- Charcot-Marie-Tooth Disease, Axonal, Type 2GG
- Charcot-Marie-Tooth Disease, Axonal, Type 2HH
- Charcot-Marie-Tooth Disease, Axonal, Type 2JJ
- Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
- Charcot-Marie-Tooth Disease, Demyelinating, IIA 1H
- Charcot-Marie-Tooth Disease, Demyelinating, IIA 1I
- Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
- Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
- Charcot-Marie-Tooth Disease, Dominant Intermediate A
- Charcot-Marie-Tooth Disease, Dominant Intermediate G
- Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
- Charcot-Marie-Tooth Disease, Intermediate Type
- Charcot-Marie-Tooth Disease, Type I
- Charcot-Marie-Tooth Disease, Type IA
- Charcot-Marie-Tooth Disease-Hearing Loss-Intellectual Disability Syndrome
- Childhood-Onset Autosomal Recessive Myopathy With External Ophthalmoplegia
- Childhood-Onset Nemaline Myopathy
- Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome
- Childhood-Onset Steinert Myotonic Dystrophy
- Classic Multiminicore Myopathy
- Collagen 6-Related Congenital Muscular Dystrophy
- Collagen 6-Related Myopathy
- Compton-North Congenital Myopathy
- Congenital Multicore Myopathy With External Ophthalmoplegia
- Congenital Muscular Dystrophy
- Congenital Muscular Dystrophy 1B
- Congenital Muscular Dystrophy Caused By Variation In POMGNT2
- Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency
- Congenital Muscular Dystrophy Due To LMNA Mutation
- Congenital Muscular Dystrophy With Cataracts And Intellectual Disability
- Congenital Muscular Dystrophy With Hyperlaxity
- Congenital Muscular Dystrophy With Intellectual Disability
- Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
- Congenital Muscular Dystrophy Without Intellectual Disability
- Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
- Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
- Congenital Myasthenic Syndrome
- Congenital Myasthenic Syndrome 10
- Congenital Myasthenic Syndrome 11
- Congenital Myasthenic Syndrome 12
- Congenital Myasthenic Syndrome 13
- Congenital Myasthenic Syndrome 14
- Congenital Myasthenic Syndrome 15
- Congenital Myasthenic Syndrome 16
- Congenital Myasthenic Syndrome 17
- Congenital Myasthenic Syndrome 18
- Congenital Myasthenic Syndrome 19
- Congenital Myasthenic Syndrome 1A
- Congenital Myasthenic Syndrome 20
- Congenital Myasthenic Syndrome 21
- Congenital Myasthenic Syndrome 2A
- Congenital Myasthenic Syndrome 2C
- Congenital Myasthenic Syndrome 3A
- Congenital Myasthenic Syndrome 3B
- Congenital Myasthenic Syndrome 3C
- Congenital Myasthenic Syndrome 4
- Congenital Myasthenic Syndrome 4A
- Congenital Myasthenic Syndrome 4B
- Congenital Myasthenic Syndrome 4C
- Congenital Myasthenic Syndrome 5
- Congenital Myasthenic Syndrome 7
- Congenital Myasthenic Syndrome 8
- Congenital Myasthenic Syndrome 9
- Congenital Myasthenic Syndrome With Tubular Aggregates
- Congenital Myopathy
- Congenital Myopathy 10b, Mild Variant
- Congenital Myopathy 11
- Congenital Myopathy 15
- Congenital Myopathy 18
- Congenital Myopathy 20
- Congenital Myopathy 21 With Early Respiratory Failure
- Congenital Myopathy 22A, Classic
- Congenital Myopathy 22B, Severe Fetal
- Congenital Myopathy 23
- Congenital Myopathy 25
- Congenital Myopathy 26
- Congenital Myopathy 2b, Severe Infantile, Autosomal Recessive
- Congenital Myopathy 2c, Severe Infantile, Autosomal Dominant
- Congenital Myopathy 4A, Autosomal Dominant
- Congenital Myopathy 4B, Autosomal Recessive
- Congenital Myopathy With Fiber Type Disproportion
- Congenital Myopathy With Internal Nuclei And Atypical Cores
- Congenital Myopathy With Myasthenic-Like Onset
- Congenital Myopathy With Reduced Type 2 Muscle Fibers
- Congenital Myopathy, Paradas Type
- Congenital Myotonia, Autosomal Dominant Form
- Congenital Myotonia, Autosomal Recessive Form
- Congenital Myotonic Dystrophy
- Congenital Nonprogressive Myopathy With Moebius And Robin Sequences
- Congenital Structural Myopathy
- Congenital-Onset Steinert Myotonic Dystrophy
- COX Deficiency, Benign Infantile Mitochondrial Myopathy
- Cylindrical Spirals Myopathy
D13
- Dejerine-Sottas Disease
- Desmin-Related Myofibrillar Myopathy
- Desmin-Related Myopathy With Mallory Body-Like Inclusions
- Distal Hereditary Motor Neuropathy Type 2
- Distal Hereditary Motor Neuropathy Type 7
- Distal Myopathy
- Distal Myopathy With Anterior Tibial Onset
- Distal Myopathy With Posterior Leg And Anterior Hand Involvement
- Distal Myopathy With Vocal Cord Weakness
- Distal Myopathy, Tateyama Type
- Distal Spinal Muscular Atrophy
- DMD-Related Muscular Dystrophy
- Duane Anomaly-Myopathy-Scoliosis Syndrome
E12
- Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
- Eichsfeld Type Congenital Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy 1, X-Linked
- Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
- Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
- Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
- Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
- Emery-Dreifuss Muscular Dystrophy 6
- Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
- Emery-Dreifuss-Like Muscular Dystrophy
- Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
F12
- Facioscapulohumeral Muscular Dystrophy
- Facioscapulohumeral Muscular Dystrophy 1
- Facioscapulohumeral Muscular Dystrophy 2
- Facioscapulohumeral Muscular Dystrophy 3, Digenic
- Facioscapulohumeral Muscular Dystrophy 4, Digenic
- Familial Idiopathic Inflammatory Myopathy
- Familial Infantile Myasthenia
- FASTKD2-Related Infantile Mitochondrial Encephalomyopathy
- Fatal Infantile Hypertonic Myofibrillar Myopathy
- FHL1-Related Myopathy
- Fingerprint Body Myopathy
- Finnish Upper Limb-Onset Distal Myopathy
G5
- Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form
- Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form
- Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form
- Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form
- GNE Myopathy
H10
- Hereditary Hollow Viscus Myopathy
- Hereditary Inclusion Body Myopathy Type 4
- Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome
- Hereditary Inclusion-Body Myopathy
- Hereditary Motor And Sensory Neuropathy With Acrodystrophy
- Hereditary Motor And Sensory Neuropathy With Optic Atrophy
- Hereditary Myopathy With Lactic Acidosis Due To ISCU Deficiency
- Hereditary Neuromuscular Disease
- Hereditary Spastic Paraplegia 9A
- Hyaline Body Myopathy
I14
- Idiopathic Dropped Head Syndrome
- Idiopathic Eosinophilic Myositis
- Idiopathic Inflammatory Myopathy
- Immune-Mediated Necrotizing Myopathy
- Inborn Mitochondrial Myopathy
- Inclusion Body Myopathy And Brain White Matter Abnormalities
- Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
- Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
- Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia Type 1
- Infantile-Onset X-Linked Spinal Muscular Atrophy
- Inflammatory Myopathy With Abundant Macrophages
- Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
- Intermediate Collagen VI-Related Muscular Dystrophy
- Intermediate Nemaline Myopathy
J3
K5
L6
M126
- Megaconial Type Congenital Muscular Dystrophy
- MEGF10-Related Myopathy
- MELAS Syndrome
- Merosin Deficient Congenital Muscular Dystrophy
- Metabolic Myopathy
- Metabolic Myopathy Due To Lactate Transporter Defect
- Mitochondrial DNA Deletion Syndrome With Progressive Myopathy
- Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
- Mitochondrial Encephalomyopathy
- Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport
- Mitochondrial Myopathy With Diabetes
- Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
- Mitochondrial Myopathy, Episodic, With Optic Atrophy And Reversible Leukoencephalopathy
- Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
- Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
- Mitochondrial Neurogastrointestinal Encephalomyopathy
- Miyoshi Muscular Dystrophy 1
- Miyoshi Muscular Dystrophy 2
- Miyoshi Muscular Dystrophy 3
- Miyoshi Myopathy
- Monomelic Amyotrophy
- Morimoto-Ryu-Malicdan Neuromuscular Syndrome
- Morvan Syndrome
- Multiminicore Myopathy
- Muscle Eye Brain Disease
- Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
- Muscular Dystrophy
- Muscular Dystrophy Secondary To Mitochondrial Disorder
- Muscular Dystrophy Secondary To Oxidative Phosphorylation Disorder
- Muscular Dystrophy, Barnes Type
- Muscular Dystrophy, Congenital, With Rapid Progression
- Muscular Dystrophy, Hemizygous Lethal Type
- Muscular Dystrophy, Limb-Girdle, Autosomal Dominant
- Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
- Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
- Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
- Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
- Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
- Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 29
- Muscular Dystrophy, Mabry Type
- Muscular Dystrophy, Progressive Pectorodorsal
- Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
- Muscular Dystrophy-Dystroglycanopathy
- Muscular Dystrophy-Dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 10
- Muscular Dystrophy-Dystroglycanopathy (congenital With Impaired Intellectual Development), Type B, 15
- Muscular Dystrophy-Dystroglycanopathy (congenital With Intellectual Disability), Type B1
- Muscular Dystrophy-Dystroglycanopathy (congenital Without Intellectual Disability), Type B4
- Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 8
- Muscular Dystrophy-Dystroglycanopathy Type B5
- Muscular Dystrophy-Dystroglycanopathy Type B6
- Muscular Dystrophy-Dystroglycanopathy, Type B
- Muscular Dystrophy-Dystroglycanopathy, Type C
- Muscular Dystrophy-White Matter Spongiosis Syndrome
- Myasthenia Gravis
- Myasthenia Gravis With Thymus Hyperplasia
- Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
- Myasthenia, Limb-Girdle, Autoimmune
- Myasthenic Syndrome, Congenital, 1B, Fast-Channel
- Myasthenic Syndrome, Congenital, 22
- Myasthenic Syndrome, Congenital, 23, Presynaptic
- Myasthenic Syndrome, Congenital, 24, Presynaptic
- Myasthenic Syndrome, Congenital, 25, Presynaptic
- Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
- MYH7-Related Skeletal Myopathy
- Myofibrillar Myopathy
- Myofibrillar Myopathy 10
- Myofibrillar Myopathy 11
- Myofibrillar Myopathy 2
- Myofibrillar Myopathy 3
- Myofibrillar Myopathy 4
- Myofibrillar Myopathy 5
- Myofibrillar Myopathy 6
- Myofibrillar Myopathy 7
- Myofibrillar Myopathy 8
- Myopathy Caused By Variation In CRPPA
- Myopathy Caused By Variation In FKRP
- Myopathy Caused By Variation In FKTN
- Myopathy Caused By Variation In GMPPB
- Myopathy Caused By Variation In POMGNT1
- Myopathy Caused By Variation In POMGNT2
- Myopathy Caused By Variation In POMT1
- Myopathy Caused By Variation In POMT2
- Myopathy Due To Calsequestrin And SERCA1 Protein Overload
- Myopathy Of Extraocular Muscle
- Myopathy With Abnormal Lipid Metabolism
- Myopathy With Hexagonally Cross-Linked Tubular Arrays
- Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
- Myopathy With Tubular Aggregates
- Myopathy, Autophagic Vacuolar, Infantile-Onset
- Myopathy, Centronuclear, 2
- Myopathy, Centronuclear, 5
- Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
- Myopathy, Congenital Proximal, With Minicore Lesions
- Myopathy, Congenital, Progressive, With Scoliosis
- Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
- Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
- Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
- Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
- Myopathy, Congenital, With Tremor
- Myopathy, Distal, 5
- Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
- Myopathy, Distal, 7, Adult-Onset, X-Linked
- Myopathy, Distal, Infantile-Onset
- Myopathy, Distal, With Rimmed Vacuoles
- Myopathy, Epilepsy, And Progressive Cerebral Atrophy
- Myopathy, Lactic Acidosis, And Sideroblastic Anemia
- Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
- Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
- Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3
- Myopathy, Myofibrillar, 13, With Rimmed Vacuoles
- Myopathy, Myofibrillar, 9, With Early Respiratory Failure
- Myopathy, Myosin Storage, Autosomal Recessive
- Myopathy, Proximal, And Ophthalmoplegia
- Myopathy, Reducing Body, X-Linked, Childhood-Onset
- Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
- Myopathy, Sarcoplasmic Body
- Myopathy, Tubular Aggregate, 1
- Myopathy, Tubular Aggregate, 2
- Myosin Storage Myopathy
- Myotonia Fluctuans
- Myotonia Permanens
- Myotonic Cataract
- Myotonic Dystrophy
- Myotonic Dystrophy Type 2
- Myotonic Syndrome
- MYPN-Related Myopathy
N39
- Nebulin-Related Early-Onset Distal Myopathy
- Nemaline Myopathy
- Nemaline Myopathy 10
- Nemaline Myopathy 2
- Nemaline Myopathy 5
- Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
- Nemaline Myopathy 5C, Autosomal Dominant
- Nemaline Myopathy 6
- Nemaline Myopathy 7
- Nemaline Myopathy 8
- Nemaline Myopathy 9
- Neonatal Myasthenia Gravis
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Alpha-Actin
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Alpha-Dystroglycan
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Beta-Myosin Heavy Chain (MYH7)
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Dysferlin
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Dystrophin
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Myofibrillar Proteins
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Nebulin
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Perlecan
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Plectin
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Protein SERCA1
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Selenoprotein N1
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Telethonin
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Titin
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of TRIM32
- Neuromuscular Disease Caused By Qualitative Or Quantitative Defects Of Tropomyosin
- Neuromuscular Disorder, Congenital, With Dysmorphic Facies
- Neuromuscular Junction Disease
- Neuronopathy, Distal Hereditary Motor, Autosomal Dominant
- Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
- Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
- Neuronopathy, Distal Hereditary Motor, Autosomal Recessive
- Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
- Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
- Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
- Neuronopathy, Distal Hereditary Motor, Type 5
- Neutral Lipid Storage Myopathy
- Nondystrophic Myotonia
O10
- Oculogastrointestinal Muscular Dystrophy
- Oculopharyngeal Muscular Dystrophy
- Oculopharyngeal Muscular Dystrophy 1
- Oculopharyngeal Muscular Dystrophy 2
- Oculopharyngodistal Myopathy
- Oculopharyngodistal Myopathy 1
- Oculopharyngodistal Myopathy 2
- Oculopharyngodistal Myopathy 3
- Oculopharyngodistal Myopathy 4
- Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
P19
- Palmoplantar Keratoderma-Hereditary Motor And Sensory Neuropathy Syndrome
- Paramyotonia Congenita Of Von Eulenburg
- Paramyotonia Congenita Without Cold Paralysis
- Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
- Polyglucosan Body Myopathy
- Polyglucosan Body Myopathy Type 1
- Polyglucosan Body Myopathy Type 2
- POMGNT2-Related Limb-Girdle Muscular Dystrophy R24
- Postsynaptic Congenital Myasthenic Syndrome
- Potassium-Aggravated Myotonia
- Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures
- Presynaptic Congenital Myasthenic Syndrome
- Progressive Muscular Dystrophy
- Progressive Scapulohumeroperoneal Distal Myopathy
- Progressive Spinal Muscular Atrophy
- Proximal Myopathy With Extrapyramidal Signs
- Proximal Myopathy With Focal Depletion Of Mitochondria
- Proximal Spinal Muscular Atrophy
- Pure Mitochondrial Myopathy
Q1
R5
S31
- Sarcotubular Myopathy
- Scapulohumeral Muscular Dystrophy
- Scapuloperoneal Myopathy
- Scapuloperoneal Spinal Muscular Atrophy
- Scapuloperoneal Spinal Muscular Atrophy, Autosomal Recessive
- Schwartz-Jampel Syndrome
- SCN4A-Related Myopathy, Autosomal Recessive
- SELENON-Related Myopathy
- Severe Congenital Nemaline Myopathy
- Severe Early-Onset Axonal Neuropathy Due To MFN2 Deficiency
- Severe X-Linked Mitochondrial Encephalomyopathy
- Severe X-Linked Myotubular Myopathy
- SNUPN-Related Muscular Dystrophy With Or Without Multi-System Involvement
- Spinal Muscular Atrophy
- Spinal Muscular Atrophy Type 0
- Spinal Muscular Atrophy With Congenital Bone Fractures 1
- Spinal Muscular Atrophy With Congenital Bone Fractures 2
- Spinal Muscular Atrophy With Lower Extremity Predominance
- Spinal Muscular Atrophy With Respiratory Distress Type 2
- Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
- Spinal Muscular Atrophy, Facioscapulohumeral Type
- Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant
- Spinal Muscular Atrophy, Ryukyuan Type
- Spinal Muscular Atrophy, Segmental
- Spinal Muscular Atrophy, Type II
- Spinal Muscular Atrophy, Type IV
- Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
- Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
- Steinert Myotonic Dystrophy Syndrome
- Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
- Symptomatic Form Of X-Linked Centronuclear Myopathy In Female Carriers
T9
U5
V3
W3
X7
- X-Linked Distal Spinal Muscular Atrophy Type 3
- X-Linked Emery-Dreifuss Muscular Dystrophy
- X-Linked Myopathy With Excessive Autophagy
- X-Linked Myopathy With Postural Muscle Atrophy
- X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
- X-Linked Recessive Mitochondrial Myopathy
- X-Linked Scapuloperoneal Muscular Dystrophy