The aim of this retrospective multicentric study was to assess developmental milestones longitudinally in type I SMA infants using the Hammersmith Infant Neurological Examination. Thirty-three type I SMA infants, who classically do not achieve the ability to sit unsupported, were included in the study. Our results confirmed that all patients had a score of 0 out of a scale of 4 on items assessi...

BACKGROUND The classical forms of severe SMA type 0 is well recognised by Pediatricians. CASE CHARACTERISTICS A hypotonic neonate with severe respiratory distress at birth. OBSERVATIONS Homozygous absence of exons 7 of the Survival Motor Neuron I gene. OUTCOME Died 108 days after admission when respiratory support was withdrawn at the request of the parents. MESSAGE Spinal Muscular Atro...

The term spinal muscular atrophy embraces a heterogeneous group of hereditary neuromuscular disorders caused by the loss of the lower motoneurones, leading to progressive muscle weakness and atrophy. The most common of these disorders is infantile and juvenile proximal spinal muscular atrophy (SMA), which has an incidence of 1/10,000 newborns and a carrier frequency of 1/50 individuals (1,2). S...

INTRODUCTION Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). METHODS The attitudes toward NBS for DMD, BMD, ...

This paper describes the development and preliminary testing of a functional upper-limb orthosis for people that have limited strength in their arms. This is symptomatic of conditions such as muscular dystrophy (MD), spinal muscular atrophy (SMA), and partial spinal cord injury. The exoskeletal orthosis is wheelchair mounted, has two links and four degrees of freedom. It uses linear elastic ele...

In 1980 Young and Harper described a family with an unusual form of distal spinal muscular atrophy associated with vocal cord paralysis. We report a family with three similarly affected subjects. Progressive sensorineural hearing loss was an additional feature in our patients. Electrophysiological and histological investigations did not exclude an involvement of sensory neurones. Whether the cl...

Various studies have shown that occurrence of locomotion in infancy is correlated with the development of spatial cognitive competencies. Recent evidence suggests that locomotor experience might also be important for the development of spatial language. Together these findings suggest that locomotor experience might play a crucial role in the development of linguistic-cognitive spatial skills. ...