Consensus statement on standard of care for congenital myopathies.

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies.

Consensus statement on standard of care for congenital muscular dystrophies.

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse.

[Jeune'disease (asphyxiating thoracic dystrophy) and respiratory failure: importance of early respiratory management with periodic hyperinsufflation].

Asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive form of chondrodysplasia characterized by short ribs. Respiratory failure is due to the reduced volume and complete immobility of the thoracic cage. There is no consensus on the treatment of this restrictive pulmonary disease.

[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)].

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by motoneuron degeneration in the anterior horn of the spinal cord and in the bulbar nuclei. The various types of SMA are linked to the 5q13 locus in 95 % of cases. In the absence of an effective specific treatment, orthopaedic and respiratory management can significantly improve the prognosis.

Respiratory capacity course in patients with infantile spinal muscular atrophy.

Study Objectives: To describe the clinical and respiratory course in infantile spinal muscular atrophy (SMA) type I, type II, and type III, and to evaluate the respiratory needs for these patients, using noninvasive or tracheostomy ventilation.

Design: Retrospective cohort study.

Methods: We report 33 patients with SMA true type I (onset before age 3 months), 35 patients with SMA intermediate type I (onset between 3 months and 6 months), 100 patients with SMA type II (onset between 6 months and 18 months), 12 patients with SMA type III (onset after age 18 months).

Evoked potentials in spinal muscular atrophy.

Visual evoked potentials, brainstem evoked responses, and somatosensory evoked potentials were evaluated in 22 children with spinal muscular atrophy, types I and II. Eleven of the children had the severe form of spinal muscular atrophy (type I) and 11 children had the intermediate form (type II). The results of visual evoked potentials, brainstem evoked responses, and somatosensory evoked potentials were compared with those obtained in a control group.