[Increased CK activity in serum without symptoms: further investigations often unnecessary].

Increased activity of the enzyme creatine kinase (CK) in serum is not infrequently encountered in routine diagnostic laboratory investigations. Patients are often referred to a neurologist specialized in neuromuscular disorders for evaluation. However, as in many cases hyperCKemia is physiological or results from physical activity or muscle trauma, further investigations are often unnecessary.

Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.

Background And Purpose: To describe the long-term follow-up of a cohort of 22 patients with the Miyoshi phenotype of distal muscular dystrophy (MMD).

Methods: A long-term clinical follow-up study was conducted. Patients were genotyped for dysferlin (MMD1) or anoctamin 5 (MMD3) mutations.

Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.

Introduction: Recent studies have indicated that a proportion of patients with renal failure, left ventricular hypertrophy, or cryptogenic stroke have sequence variants in their aGal A gene (Fabry disease), which has resulted in an increase in diagnostic activities for this disorder. The diagnostic process for lysosomal storage disorders may result in findings of unknown clinical significance. Here we report such an unexpected outcome.

Recombinant human insulin-like growth factor I (rhIGF-I) for the treatment of amyotrophic lateral sclerosis/motor neuron disease.

Background: Recombinant human insulin-like growth factor I (rhIGF-I) is a possible disease modifying therapy for amyotrophic lateral sclerosis (ALS, which is also known as motor neuron disease (MND)).

Objectives: To examine the efficacy of rhIGF-I in affecting disease progression, impact on measures of functional health status, prolonging survival and delaying the use of surrogates (tracheostomy and mechanical ventilation) to sustain survival in ALS. Occurrence of adverse events was also reviewed.