Table 1.
Risk levels and susceptible age groups of acute respiratory compromises in different neuromuscular disorders.
| Primarily affected age group | Risk level of ARF occurrence | Affected NMD |
|---|---|---|
| At birth or within the first year of life | Usually inevitable if untreated | Spinal muscular atrophy (SMA) type 1 (if untreated)*
Spinal muscular atrophy with respiratory distress (SMARD) Congenital myotonic dystrophy (type 1) Infantile Pompe disease (if untreated)* Some congenital myopathies (e.g., neonatal form of nemaline myopathy, minicore myopathy, and X-linked myotubular myopathy) Some congenital muscular dystrophies (CMD) (e.g., Walker-Warburg syndrome and Muscle–eye–brain disease) Some mitochondrial diseases Some congenital myasthenic syndromes |
| Infant-to-adult life | Very high risk | Some limb-girdle muscular dystrophy (LGMD), especially with sarcoglycanopathies (LGMD types 2C, 2D, 2E, 2F) and LGMD type 2I Some CMD, especially merosin negative types 1A, 1B, 1C Some myofibrillar myopathies (e.g., hereditary myopathy with early respiratory failure) Early-onset infantile facioscapulohumeral muscular dystrophy (FSHD) Early-onset Charcote-Marie-Tooth disease (CMTD) especially with GDAP1 mutation Some congenital myopathies (e.g., severe recessive type of central core myopathy) |
| infant-to-adult life | High risk | Duchenne muscular dystrophy (DMD), usually after second decade SMA type 2 Myotonic dystrophy type 1 (DM1) Late-onset Pompe disease (LOPD) Some CMD (e.g., Ullrich type, and Fukuyama congenital muscular dystrophy) Some LGMD (e.g., calpainopathy) Some congenital myopathies (e.g., centronuclear myopathy) Bethlem myopathy Congenital myasthenic syndromes Some mitochondrial myopathies (e.g., A3243G mutation in the tRNALeu gene) |
| Intermediate risk | Becker muscular dystrophy (BMD) SMA type 3 Inflammatory myopathies (e.g., polymyositis, dermatomyositis) Classical type of FSHD Some types of Charcot–Marie–Tooth disease (e.g., CMTD type 1B and 4) Some congenital myopathies Some mitochondrial myopathies Guillain–Barré syndrome (GBS) Myasthenia gravis (MG) |
|
| Low risk | Oculopharyngeal muscular dystrophy (OPMD) Other types of CMTD Chronic inflammatory demyelinating polyneuropathy (CIDP) |