Analysis of Creatine Kinase Activity in 504 Patients with Proximal Spinal Muscular Atrophy Types I–III from the Point of View of Progression and Severity

  title={Analysis of Creatine Kinase Activity in 504 Patients with Proximal Spinal Muscular Atrophy Types I–III from the Point of View of Progression and Severity},
  author={Sabine Rudnik-Sch{\"o}neborn and Susanne L{\"u}tzenrath and Janina Borkowska and A. Karwańska and Irena Hausmanowa-Petrusewicz and Klaus Zerres},
  journal={European Neurology},
  pages={154 - 162}
Mild to moderately elevated creatine kinase (CK) activity is a frequent biochemical finding in proximal spinal muscular atrophy (SMA). In a collaborative study on all types of childhood and juvenile onset SMA, we analysed the CK activity of 504 SMA patients (138 type I, 127 type II, 144 type IIIa, and 95 type IIIb patients). Under the assumption of a lognormal distribution of CK activity as the most appropriate statistical model, CK levels were transformed into logarithms and compared by… 

Figures and Tables from this paper

Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis

Genetic testing for SBMA is recommended in cases of male patients with motor neuron disease who present with a significantly elevated serum creatine kinase level, even when other characteristic clinical features of SBMA are absent.

Differential Diagnosis of HyperCKemia

This review includes an algorithm for the differential diagnosis of CK elevation in patients without muscular symptoms and data from recent studies indicate that the upper limits of normal (ULN) need to be revised upward.

Value of muscle enzyme measurement in evaluating different neuromuscular diseases.

Serum Creatine Kinase Concentration & Its Association with Severity in Acute Ischemic Stroke Patients: A Cross-Sectional Analytical Study

Increase severity of acute ischaemic stroke causes increased level of serum creatine kinase, and there is a positive correlation between NIH Stroke Score and Serum Creatine kinase level.

Biomarkers of therapeutic efficacy in adolescents and adults with 5q spinal muscular atrophy: a systematic review.

There is evidence based on real-world observational studies suggesting that serum creatinine, creatine kinase activity levels along with CSF Αβ42, glial fibrillary acidic protein concentration as well as ulnar compound motor action potential amplitude and single motor unit potential amplitude changes may depict therapeutic response in this population of SMA patients.

Observational study of spinal muscular atrophy type I and implications for clinical trials

Infants with SMA-I can be effectively enrolled and retained in a 12-month natural history study until a majority reach the combined endpoint of death, and these outcome data can be used for clinical trial design.

A 54-Year-Old Man with Progressive Lower Limb Weakness and CK Elevation

  • Lan Zhou
  • Medicine, Biology
    A Case-Based Guide to Neuromuscular Pathology
  • 2019
A patient with FALS caused by an SOD1 gene mutation is described, which had been misdiagnosed with lumbosacral polyradiculopathy and myopathy for 2 years and shows prominent chronic active denervation with pseudomyopathic changes.

Creatine kinase monitoring in sport medicine.

It is probably safe to counsel athletes with suspected myopathy to continue to undertake physical activity at a lower intensity, so as to prevent muscle damage from high intensity exercise and allow ample recovery to favour adequate recovery.



Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications.

The definition of long-term characteristics of SMA is helpful in providing medical care to families with members who have SMA and also in providing important information for future genotype-phenotype studies and therapeutic trials of patients with SMA.

Wohlfart-Kugelberg-Welander syndrome: serum creatine kinase and functional outcome.

The medical records of 31 patients with clinical and electrophysiologic features of Wohlfart-Kugelberg-Welander syndrome were reviewed, and proximal muscle weakness, especially of the lower extremities, and muscular atrophy were the predominant clinical features.

Heterogeneity of serum creatine kinase activity among racial and gender groups of the population.

To develop reference ranges for creatine kinase (CK) appropriate for the patient population served by this hospital, levels of serum CK were measured in 1,537 individuals in our employee population.

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

The occurrence of SMN deletions in unaffected individuals suggests that other genes or mechanisms may be necessary to produce the SMA phenotype, and the largest divergence between age at onset of an affected subject and the present age of unaffected deleted sibs is four decades now.

Infantile and juvenile spinal muscular atrophy.

Spinal Muscular Atrophy: Infantile and Juvenile Type

This book reflects the author's extensive personal experience with the spectrum of spinal muscular atrophies of infancy and childhood and can be highly recommended to pediatric neurologists, geneticists, and others who have a special interest in this group of disorders.