- Nemaline myopathy
- Centronuclear (myotubular) myopathy
- Central core disease
- Multiminicore disease
- Congenital fiber-type disproportion
6:100 000 live births
Congenital myopathies are transmitted through autosomal dominant or autosomal recessive inheritance. The cause is not always known. Characteristic of the congenital myopathies are structural deviations in the muscle fibres which can be shown by means of a muscle biopsy.
Congenital myopathies are characterised by early muscle weakness and muscle slackness. Muscle weakness chiefly comprises muscles close to the body in shoulders, pelvis/thigh, neck and also the muscles in the face and mouth. Retarded motor development is common. There is an increased risk of malposition of the spine (lordosis and skoliosis). Breathing may be affected and sometimes some form of respiratory support is needed.
Sucking difficulty often occurs in the new born period due to muscle weakness and muscle slackness. The weak muscles affect the growth of the jaws which may entail a characteristic appearance with an oval face, high arched palate and receding mandible. Weak muscles in face, lips, tongue and soft palate may produce a flattened facial expression and affect speech, chewing and swallowing functions.
- It is important that people with congenital myopathies have early contact with dental services for intensified preventive care and information on the oral cavity
- Development of teeth and bite must be followed up. In the event of deviations, an orthodontist should be consulted at an early stage for planning possible bite corrective treatment.
- Eating and swallowing difficulties are investigated and treated by a specialist team at the hospital or habilitation team.
- Training of oral motor functions and stimulation may be needed to try to provide as favourable preconditions as possible for jaw growth, speech development and development of eating function.
- Speech, language and communication training is often warranted.
- The rare disease database of the Swedish National Board of Health and Welfare.
- The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
- The Documentation from the Ågrenska national competence centre for rare diseases.