Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects
Elisabetta D'Adda1, Monica Sciacco, Maria Elisa Fruguglietti
1Centro Dino Ferrari, Istituto di Clinica Neurologica, Ospedale Maggiore, IRCCS, via F Sforza 35, 20122, Milano, Italy.
Insights
Most individuals with unexplained high creatine kinase (CK) levels remained asymptomatic, with few developing neuromuscular disorders over time. Some cases revealed carrier status for genetic conditions, while CK levels often normalized.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- A previous study identified 21 diagnoses in 114 individuals with asymptomatic/oligosymptomatic hyperckemia (elevated creatine kinase).
- This study focuses on the long-term follow-up of 55 individuals who remained undiagnosed after the initial investigation.
Purpose of the Study:
- To assess the long-term clinical outcomes and diagnostic evolution in individuals with persistent unexplained hyperckemia.
- To determine the development of neuromuscular disorders and identify potential underlying genetic conditions.
Main Methods:
- Long-term follow-up of 55 individuals initially diagnosed with asymptomatic/oligosymptomatic hyperckemia.
- Clinical assessment, creatine kinase (CK) level monitoring, and analysis of diagnostic outcomes over time.
- Comparison of CK level modifications based on initial electromyography (EMG) and muscle biopsy findings.
Main Results:
- The majority of participants remained asymptomatic, without developing specific neuromuscular disorders.
- One subject presented with limb-girdle weakness, and two individuals were indirectly diagnosed as carriers for dystrophinopathy and type I spinal muscular atrophy (SMA).
- Most subjects maintained elevated CK levels, although mean values decreased; CK normalized in 12 individuals. No significant differences in CK modification were observed between those with and without initial pathological EMG/biopsy findings.
Conclusions:
- Persistent asymptomatic hyperckemia is common in individuals without a clear diagnosis.
- While most remain clinically stable, long-term monitoring can reveal rare symptomatic cases or identify carrier status for genetic neuromuscular diseases.
- Creatine kinase normalization can occur over time, irrespective of initial EMG or muscle biopsy results.
Abstract:
Six years before the present study we performed a retrospective study of 114 subjects presenting with asymptomatic / oligosymptomatic hyperckemia (raised creatine kinase blood levels), a diagnosis being made in 21 of them. We now present the results of a long-term follow-up in 55 of the still undiagnosed 93 individuals. Most of them have remained asymptomatic and did not develop specific neuromuscular disorders. One subject became frankly symptomatic manifesting limb-girdle weakness. A diagnosis of dystrophinopathy carrier and one of possible type I SMA carrier were indirectly made in another two subjects. Almost all subjects still have hyperckemia, though the mean creatine kinase (CK) value is lower than before. CK levels have become normal in 12 subjects. Two died of neoplasia, and six developed non-neuromuscular disorders. We noted no follow-up differences in terms of CK modifications between subjects with pathological EMG and/or muscle biopsy findings and those with normal findings at first examination.
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