Lung function in children with Duchenne's muscular dystrophy.

Duchenne's muscular dystrophy (DMD), characterized by gradually developing muscular weakness, leads to respiratory symptoms and reduced lung function. We aimed to assess lung function in 25 patients with DMD in relationship to age and muscular function. The 25 boys, mean age 13 years, comprized patients in southern Norway with DMD, taking part in an epidemiological follow-up study.

[Health and social services for children with neuromuscular diseases].

Background: Information from parents of children with neuromuscular diseases and from the children 16 years later is used to discuss specialist medical care towards this group in view of new treatment possibilities and the Norwegian health and social service reforms over the same period.

Material And Methods: Parents of 100 children with neuromuscular disease were interviewed in 1981 about their children's health and their use of health and social services. The interviews were repeated in 1997 with 58 of 68 children still living.

Lung function measurements in young children with spinal muscle atrophy; a cross sectional survey on the effect of position and bracing.

Background: Spinal muscular atrophy (SMA) affects respiratory muscles, which in addition to progressive scoliosis leads to respiratory impairment. Children with developing scoliosis are usually treated with spinal bracing to delay the progress.

Aims: To assess the impact of body position and application of spinal bracing on lung function during tidal breathing in children with SMA.

Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome?

We report seemingly unique craniofacial malformations and deglutition dysfunction in a sib pair. The boy had right maxillomandibular alveolar synechae, ankylosis of right temporomandibular joint, hypoplasia of the zygomatico-maxillary region, nasal deviation to the left, choanal stenosis, and exophthalmos due to shallow orbita. His ears were apparently low-set with prominent lobules.

Congestive heart failure caused by vitamin D deficiency?

We describe a child, 3.5 months old, with severe vitamin D deficiency, profound hypocalcaemia, hyperphosphataemia, dilated left ventricle, severely reduced myocardial contractility and congestive heart failure. She also had depressed thyroid function with subnormal thyroxine and non-detectable serum thyrotropin (TSH) levels.