Initial reports of patients with laminin α2 chain (merosin) deficiency had a relatively
homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by …

Objective: To review the medical literature on critical illness polyneuropathy and myopathy
in childhood. Data Source: Medline and EMBASE were searched using the following terms: …

Background People with pes cavus frequently suffer foot pain, which can lead to significant
disability. Despite anecdotal reports, rigorous scientific investigation of this condition and …

INTRODUCTION: The limitations of clinical methods for appraising foot posture are well
documented. A new measure, the Foot Posture Index is proposed, and its development and …

OBJECTIVES: To describe the incidence and clinical features of children presenting to
Australian child health specialists with conversion disorder. METHOD: Active, national …

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous
group of disorders. A particularly severe subgroup first described in 1894, and subsequently …

Background Charcot–Marie–Tooth disease type 1A (CMT1A) is the most common inherited
nerve disorder. CMT1A is characterised by peripheral nerve demyelination, weakness, and …

BACKGROUND AND OBJECTIVES: Pediatric encephalitis has a wide range of etiologies,
clinical presentations, and outcomes. This study seeks to classify and characterize infectious, …

We have investigated the myelin P o gene on chromosome 1 as a candidate gene in two
sporadic cases with Dejerine–Sottas disease or hereditary motor and sensory neuropathy (…

Background Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes:
familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal‐…