Myotonic dystrophy type 1 has distal weakness, with myotonia prominent in the hands; type 2 has proximal muscle weakness (also called PROMM or proximal myotonic myopathy). The signs and symptoms of myotonic dystrophy typically manifest in the third or fourth decade, although they can occur at any age.
Congenital myotonic dystrophy can occur in neonates born to affected mothers. These children have a severe phenotype with prominent weakness, hypotonia, skeletal abnormalities, feeding difficulties, and respiratory distress at birth.
For more information on myotonic dystrophy 1, see OMIM.
For more information on myotonic dystrophy 2, see OMIM.
G71.11 – Myotonic muscular dystrophy
77956009 – Steinert myotonic dystrophy syndrome
- Myotonia congenita
- Paramyotonia congenita
- Duchenne muscular dystrophy
- Becker muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- Limb-girdle muscular dystrophy
- Fascioscapulohumeral muscular dystrophy
- Oculopharyngeal muscular dystrophy
- Spinal muscular atrophy
- Pompe disease
- McArdle disease
- Carnitine deficiency
- Carnitine palmitoyltransferase deficiency
- Myasthenia gravis
- Stiff-person syndrome