Gene Table of Neuromuscular Disorders (WMS)

The 17 disease groups used to organise the Gene Table of Neuromuscular Disorders (nuclear genome), prepared by Gisele Bonne (Sorbonne Universite/Institut de Myologie) and Francois Rivier (CHU de Montpellier), published annually in *Neuromuscular Disorders* (the journal of the World Muscle Society) and served online at https://musclegenetable.fr/. This is a **gene** classification, not a disease classification. The table is a gene catalogue whose rows are genes, and the 17 groups are its filing system; a gene appears in as many groups as it has clinically distinct allelic presentations. TTN, for example, is Udd distal myopathy in group 4, LGMDR10 in group 1, centronuclear myopathy in group 3, HMERF in group 5, dilated/hypertrophic cardiomyopathy in group 10, and a motoneuron-disease presentation in group 12 — six groups for one gene. Group membership is therefore genuinely set-valued per gene, which is why it is recorded in ``kb/gene_classifications/nmd_gene_table.yaml`` against HGNC identifiers rather than as a single-valued classification on a disease entry. Note this is **not** an expert nosology in the sense of the ISDS Nosology of Genetic Skeletal Disorders, which is a nosology committee's placement of each disorder into exactly one of 41 groups. There is no equivalent whole-domain nosology for neuromuscular disease; the field instead has this gene catalogue plus a set of separate consensus classifications for individual sub-domains (the 229th ENMC LGMD nomenclature, the Engel classification of congenital myasthenic syndromes by defect site, CMT by nerve conduction velocity). Scope limits inherited from the source, both of which mean a gene is simply absent rather than assigned to a catch-all: - **Nuclear genome only.** Group 16 covers only nDNA-encoded mitochondrial myopathy; mtDNA-encoded disease such as MELAS or MERRF is out of scope. - **Monogenic only.** Acquired neuromuscular disease — myasthenia gravis, the inflammatory myopathies, Guillain-Barre syndrome, botulism — has no group.

Schema enum: GeneTableNMDGroupEnum Schema source: https://w3id.org/monarch-initiative/dismech/classifications/gene_table_nmd

Schema Enum Description

The 17 disease groups of the Gene Table of Neuromuscular Disorders, ordered by the table's own group number. Names are transcribed verbatim from the group navigation of the online table. These groups are not mutually exclusive.

Muscular dystrophies muscular_dystrophies

Group 1. Dystrophinopathies, the limb-girdle muscular dystrophies under the reformed 229th ENMC nomenclature (LGMD-D dominant, LGMD-R recessive), Emery-Dreifuss, facioscapulohumeral and oculopharyngeal muscular dystrophy.
Congenital muscular dystrophies congenital_muscular_dystrophies

Group 2. Dystrophic muscle disease presenting at or near birth — dystroglycanopathies, collagen VI-related, LAMA2/merosin-deficient and SELENON-related congenital muscular dystrophy.
Congenital myopathies congenital_myopathies

Group 3. Non-dystrophic congenital muscle disease, conventionally grouped by predominant histopathology — nemaline/rod, core (central core and multiminicore), centronuclear/myotubular, and congenital fibre-type disproportion.
Distal myopathies distal_myopathies

Group 4. Myopathies with predominantly distal weakness at onset, organised by inheritance, age at onset and whether the anterior or posterior compartment is affected first.
Other myopathies other_myopathies

Group 5. Residual myopathy group for entities fitting none of groups 1-4, including the myofibrillar myopathies and hereditary myopathy with early respiratory failure.
Myotonic syndromes myotonic_syndromes

Group 6. Myotonic dystrophy type 1 (DMPK) and type 2 (CNBP). The non-dystrophic myotonias arising from CLCN1 and SCN4A are ion channel diseases and are listed in group 7 instead.
Ion channel muscle diseases ion_channel_muscle_diseases

Group 7. Skeletal muscle channelopathies — myotonia congenita (CLCN1), sodium-channel myotonia and paramyotonia congenita (SCN4A), hyperkalaemic and hypokalaemic periodic paralysis, Andersen-Tawil syndrome.
Malignant hyperthermia malignant_hyperthermia

Group 8. Pharmacogenetic susceptibility to volatile anaesthetics and succinylcholine, chiefly RYR1 and CACNA1S. A susceptibility trait rather than a myopathy, which is why it is separated from group 3 despite sharing genes with it.
Metabolic myopathies metabolic_myopathies

Group 9. Muscle disease from a block in energy metabolism — the muscle glycogenoses, fatty-acid oxidation defects, and related disorders of substrate handling.
Hereditary cardiomyopathies hereditary_cardiomyopathies

Group 10. Included because many genes are shared with skeletal muscle disease (LMNA, DES, FLNC, TTN, CRYAB, BAG3 each cause both).
Congenital myasthenic syndromes congenital_myasthenic_syndromes

Group 11. Genetic defects of neuromuscular transmission, sub-classified by site of the lesion — presynaptic, synaptic basal lamina, postsynaptic, endplate development and maintenance, and glycosylation defects.
Spinal muscular atrophies and motoneuron diseases spinal_muscular_atrophies_motoneuron_diseases

Group 12. SMN1-related spinal muscular atrophy and its non-5q forms, familial amyotrophic lateral sclerosis genes, distal hereditary motor neuronopathies, and spinal and bulbar muscular atrophy.
Hereditary ataxias hereditary_ataxias

Group 13. Friedreich ataxia, the spinocerebellar ataxias, and ataxia with oculomotor apraxia. Present in a neuromuscular catalogue because of peripheral nerve involvement and shared genes.
Hereditary motor and sensory neuropathies hereditary_motor_and_sensory_neuropathies

Group 14. The Charcot-Marie-Tooth spectrum, conventionally cut on median motor nerve conduction velocity into demyelinating, axonal and intermediate forms, plus the hereditary sensory and autonomic neuropathies.
Hereditary paraplegias hereditary_paraplegias

Group 15. The hereditary spastic paraplegias, pure and complicated forms. An upper-motor-neuron group, shares genes with group 12.
Mitochondrial myopathies mitochondrial_myopathies

Group 16. **nDNA-encoded only**, since the table excludes mitochondrial-genome defects by scope.
Other neuromuscular disorders other_neuromuscular_disorders

Group 17. Residual group for monogenic neuromuscular entities the table places in none of groups 1-16. Not a home for acquired neuromuscular disease, which is outside the table's scope entirely.