Neuromuscular Diseases and Disorders
Neuromuscular disease is defined less by a single organ than by a single functional circuit: the motor unit. One anterior horn cell, its axon, the neuromuscular junction it forms, and the muscle fibres it supplies. A lesion at any of those four points produces weakness — but the pattern of that weakness, its distribution, its reflex signature and its electrophysiological fingerprint differ at every level. Localising the lesion before ordering a test remains the single most consequential decision in neuromuscular practice, and it is the organising principle of this session.
The Neuromuscular Diseases and Disorders track at the Neurology Conference brings together clinicians and scientists working across that whole circuit — from anterior horn cell degeneration and inherited axonal neuropathies through to antibody-mediated failure of synaptic transmission and primary disorders of the muscle fibre itself. Sessions deliberately cross the boundaries that specialty training tends to enforce: a discussion of decremental responses on repetitive nerve stimulation in Myasthenia Gravis sits alongside conduction-block criteria in acquired demyelinating Peripheral Neuropathy, because the diagnostic reasoning is continuous even when the pathology is not.
What has changed most sharply over the past decade is the therapeutic horizon. Conditions that were managed almost entirely through supportive care now have genotype-directed options — splice-modulating oligonucleotides, single-dose gene transfer, targeted complement and FcRn blockade. That shift has moved the hard questions downstream: which patient, at what stage, measured against which endpoint, and at what cost to which health system. Alongside inherited disease, this track also covers acute immune-mediated presentations such as Guillain-Barré Syndrome, where the clinical challenge is not therapeutic choice but speed of recognition and respiratory vigilance.
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Localising the Lesion — The Four Levels of the Motor Unit
Anterior horn cell / motor neuron
- Amyotrophic lateral sclerosis and its regional variants; progressive muscular atrophy; primary lateral sclerosis
- Spinal muscular atrophy, stratified by SMN2 copy number
- Post-polio syndrome and other late sequelae of anterior horn injury
- Signature: painless progressive weakness, wasting with fasciculation, preserved sensation, mixed upper and lower motor neuron signs
Peripheral nerve
- Inherited: Charcot-Marie-Tooth disease and its demyelinating and axonal subtypes; hereditary neuropathy with liability to pressure palsies
- Acquired inflammatory: Guillain-Barré syndrome and its axonal variants; chronic inflammatory demyelinating polyradiculoneuropathy; multifocal motor neuropathy
- Metabolic, toxic and paraproteinaemic: diabetic polyneuropathy, chemotherapy-induced neuropathy, anti-MAG neuropathy, transthyretin amyloid polyneuropathy
- Signature: length-dependent sensory loss, distal weakness, depressed reflexes, positive sensory symptoms
Neuromuscular junction
- Postsynaptic: myasthenia gravis, subclassified by AChR, MuSK, LRP4 or seronegative status
- Presynaptic: Lambert-Eaton myasthenic syndrome, botulism
- Congenital myasthenic syndromes, and the paediatric presentations that are still routinely mistaken for myopathy
- Signature: fatigable weakness, ocular and bulbar predilection, fluctuation within a single day
Muscle
- Dystrophinopathies (Duchenne and Becker); limb-girdle muscular dystrophies; facioscapulohumeral dystrophy; myotonic dystrophy types 1 and 2
- Congenital myopathies, including RYR1-, nebulin- and actin-related disease
- Metabolic and mitochondrial myopathies: Pompe disease, McArdle disease, primary mitochondrial myopathy
- Idiopathic inflammatory myopathies: dermatomyositis, immune-mediated necrotising myopathy, inclusion body myositis, antisynthetase syndrome
- Signature: proximal symmetrical weakness, elevated creatine kinase, no sensory involvement, selective muscle involvement on imaging
Diagnostic Workflow — From Bedside Pattern to Molecular Confirmation
Phenotype recognition
- Scapular winging, calf hypertrophy, grip myotonia, ptosis with fatigability, and the other physical signs that meaningfully narrow the differential before any test
- Distinguishing exercise intolerance and cramping from fixed weakness
Serology
- Junction antibodies: AChR, MuSK, LRP4, agrin, VGCC
- Myositis-specific and myositis-associated antibodies: anti-HMGCR, anti-SRP, anti-Mi-2, anti-TIF1γ, anti-MDA5, anti-NT5c1A
- Neuropathy-associated: ganglioside panels, anti-MAG, nodal and paranodal antibodies
Muscle imaging
- Whole-body and targeted muscle MRI; quantitative fat-fraction as a trial-ready biomarker
- Selective involvement patterns that point toward specific LGMD subtypes
Genetic testing
- Targeted panels, exome and genome sequencing, and when each is the right first-line choice
- Assays that standard sequencing misses: repeat-primed PCR for myotonic dystrophy, MLPA for dystrophin deletions and duplications, SMN1/SMN2 copy number, D4Z4 contraction analysis in FSHD
- Variant interpretation, reanalysis of negative exomes, and functional validation of variants of uncertain significance
Electrodiagnosis
- Nerve conduction studies: demyelinating versus axonal patterns, conduction block, temporal dispersion
- Needle EMG: myopathic short-duration polyphasic units versus neurogenic large-amplitude units, fibrillation potentials, myotonic discharges
- Repetitive nerve stimulation decrement and post-exercise facilitation
- Single-fibre EMG and jitter analysis for seronegative junction disease
- Motor unit number estimation and MUNIX as progression measures
- Neuromuscular ultrasound: nerve cross-sectional area, fascicular enlargement, muscle echogenicity
Histopathology and fluid biomarkers
- Muscle biopsy: when it still adds value in a genomics-first era; immunohistochemistry and Western blot for protein absence
- Creatine kinase interpretation, neurofilament light chain, and emerging tissue-specific markers
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