Degree of respiratory involvement in various inherited primary muscle conditions
| Condition | Respiratory involvement |
|---|---|
| AMD, acid maltase deficiency; BMD, Becker muscular dystrophy; DM, distal myopathy; DM1, myotonic dystrophy; EDMD, Emery–Dreifuss muscular dystrophy; FSH, facioscapulohumeral dystrophy; LGMD 1, autosomal dominant limb-girdle muscular dystrophy; LGMD 2, autosomal recessive limb-girdle muscular dystrophy; MDC, congenital muscular dystrophy; OPMD, oculopharyngeal muscular dystrophy. | |
| Duchenne muscular dystrophy | Inevitable, usually in teens, due to respiratory weakness |
| BMD | Less known but can occur with disease progression |
| DM1 | Common, due to |
| Sleep disordered breathing | |
| Respiratory muscle weakness and myotonia | |
| Alveolar hypoventilation | |
| Aspiration pneumonia | |
| FSH | Respiratory insufficiency reported in severe disease |
| LGMD 1 | Can occur due to scoliosis and spinal rigidity |
| LGMD 2 | |
| LGMD 2A (calpainopathy) | Late involvement |
| LGMD 2B (dysferlinopathy) | Not reported |
| LGMD 2C (γ sarcoglycanopathy) | Common |
| LGMD 2D (α sarcoglycanopathy) | Common |
| LGMD 2E (β sarcoglycanopathy) | Common |
| LGMD 2F (δ sarcoglycanopathy) | Common |
| LGMD 2G | Not reported |
| LGMD 2H | Not reported |
| LGMD 2I | Common |
| EDMD | Occurs in association with skeletal deformities |
| OPMD | Aspiration pneumonia and sleep disordered breathing reported |
| Bethlem myopathy | Common |
| Autosomal dominant DM | |
| Laing | Rare |
| Welander | |
| Markesbery–Griggs–Udd | |
| Autosomal recessive DM | |
| Nonaka | Rare |
| Miyoshi | |
| Myofibrillar myopathy with abnormal desmin | Common |
| Metabolic myopathy | |
| Glycogenosis type II (AMD) | |
| Infantile | Common |
| Childhood/adults | Common |
| Glycogenosis type V (McArdle’s) | Respiratory failure with acidosis reported |
| Fatty acid metabolism disorder | Uncommon unless severe rhabdomyolysis |
| Mitochondrial disorders | Can present with |
| Respiratory muscle weakness | |
| Hyperventilation syndrome secondary to acidosis | |
| Central hypoventilation | |
| Congenital myopathy | |
| Nemaline myopathy | |
| Infantile/childhood | Inevitable |
| Adult | Common |
| Central core disease | Rare |
| Minicore myopathy | Inevitable |
| Myotubular myopathy | Inevitable |
| MDC | |
| Normal cognition, merosin negative | |
| MDC 1A, 1B, 1C | Inevitable |
| Normal cognition, merosin positive | |
| Ullrich MDC | |
| Early spine rigidity | Inevitable |
| Associated mental abnormality | |
| Fukuyama | |
| Muscle–eye–brain | Inevitable, early onset |
| Walker–Warburg | |