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Neuromuscular features in Marfan syndrome
N c Voermans1, J Timmermans, N van Alfen
1Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, 6500 HBNijmegen, the Netherlands. n.voermans@neuro.umcn.nl
Clinical Genetics
|August 8, 2009
Summary
This study reveals that Marfan syndrome frequently involves neuromuscular issues like myopathy and polyneuropathy, particularly in older patients. Increased awareness of these symptoms is crucial for comprehensive Marfan syndrome care.
Area of Science:
- Neurology
- Genetics
- Rheumatology
Background:
- Marfan syndrome is a heritable connective tissue disorder.
- Neuromuscular features are infrequently reported in Marfan syndrome.
- This study investigates neuromuscular involvement in a non-selected Marfan population.
Purpose of the Study:
- To delineate the spectrum and frequency of neuromuscular symptoms in Marfan syndrome.
- To evaluate neuromuscular involvement using a comprehensive diagnostic approach.
- To assess the impact of age on neuromuscular symptoms in Marfan patients.
Main Methods:
- 10 Marfan patients and 20 healthy controls underwent standardized questionnaires and physical examinations.
- Nerve conduction studies (NCS), needle electromyography (EMG), and muscle ultrasound were performed.
- Muscle biopsies and screening of neuroimages for dural ectasia were also conducted.
Main Results:
- The majority of Marfan patients exhibited neuromuscular symptoms, including muscle weakness and reduced vibration sense.
- NCS revealed axonal polyneuropathy, while EMG showed myopathic and neurogenic changes in all patients.
- Muscle ultrasound indicated increased echo intensity and atrophy in over half of the patients, with myopathic changes noted in muscle biopsies.
Conclusions:
- Marfan syndrome commonly presents with myopathy, polyneuropathy, or both, alongside lumbosacral radiculopathy.
- Neuromuscular symptoms are more pronounced in older Marfan syndrome patients.
- Enhanced awareness of neuromuscular involvement is needed for improved patient care.
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