Jan T Groothuis

Jan T Groothuis
Radboud University Medical Centre (Radboudumc) · Department of Rehabilitation

MD, PhD

About

85
Publications
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986
Citations
Additional affiliations
March 2005 - February 2011
Radboud University Medical Centre (Radboudumc)
Position
  • PhD

Publications

Publications (85)
Article
Purpose: To assess the psychosocial outcomes of facial weakness in facioscapulohumeral muscular dystrophy (FSHD). Materials and methods: A cross-sectional survey study. The severity of facial weakness was assessed by patients (self-reported degree of facial weakness) and by physicians (part I FSHD clinical score). Questionnaires on facial functi...
Article
Full-text available
Objective To evaluate the 5-year change in respiratory function in patients with facioscapulohumeral muscular dystrophy (FSHD). Methods Genetically confirmed patients with FSHD aged ≥ 18 years were examined twice over five years. Forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1) were measured using hand-held spirometry with a...
Article
Introduction/ aims: Neuralgic amyotrophy (NA) is a multifocal neuropathy involving the nerves of the upper extremity, limiting functional capability and reducing range of motion. The reachable workspace (RWS) is a computerized 3D analysis system that evaluates the relative surface area (RSA) of an individual's arm reachability and has shown utilit...
Article
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are rare neuromuscular diseases caused by mutations in the LAMA2 and SELENON (SEPN1) gene, respectively. Systematic reviews on cardiac features in both neuromuscular diseases are lacking. This scoping review aims to elucidate the cardiac involvement in LAMA...
Article
Purpose: Facial weakness and its functional consequences are an often underappreciated clinical feature of facioscapulohumeral muscular dystrophy (FSHD) by healthcare professionals and researchers. This is at least in part due to the fact that there are few adequate clinical outcome measures available. Methods: We developed the Facial Function S...
Article
Full-text available
Neuralgic amyotrophy is a common peripheral nerve disorder caused by auto-immune inflammation of the brachial plexus, clinically characterized by acute pain and weakness of the shoulder muscles, followed by motor impairment. Despite recovery of the peripheral nerves, patients often have residual motor dysfunction of the upper extremity, leading to...
Article
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Background High quality care of patients with neuromuscular diseases requires a personalised approach that focuses on achieving and maintaining a level of functioning that enables them to be in a state of well-being. The capability approach states that well-being should be understood in terms of capabilities, the substantial opportunities that peop...
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Background Promising genetic therapies are being investigated in facioscapulohumeral muscular dystrophy (FSHD). However, the current cost of illness is largely unknown. Objective This study aimed at determining the socioeconomic burden of FSHD. Methods Adult patients with FSHD from the Dutch FSHD registry were invited to complete a questionnaire...
Article
There is no consensus on clinical outcome measures that reflect function, activities and participation which are suitable for adults with mitochondrial diseases (MD). The aim of this study was to determine feasible and clinically relevant outcome measures for patients with MD . In 156 adult patients with MD, endurance, balance, strength and mobilit...
Article
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Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in the LAMA2 gene (LAMA2-related muscular dystrophy, LAMA2-MD) has a similar clinical phenotype, with...
Article
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Objective To obtain insight into experiences of patients with a neuromuscular disease and chronic fatigue and their healthcare professionals regarding content and delivery of a multidisciplinary outpatient self-management group programme to improve social participation. This will inform future implementation. Design A mixed method study alongside...
Article
Objective Brain-Computer Interface (BCI) spellers that make use of code-modulated Visual Evoked Potentials (cVEP) may provide a fast and more accurate alternative to existing visual BCI spellers for patients with Amyotrophic Lateral Sclerosis (ALS). However, so far the cVEP speller has only been tested on healthy participants. Methods We assess th...
Article
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BACKGROUND: Impaired upper extremity function due to muscle paresis or paralysis has a major impact on independent living and quality of life (QoL). Assistive technology (AT) for upper extremity function (i.e. dynamic arm supports and robotic arms) can increase a client’s independence. Previous studies revealed that clients often use AT not to thei...
Article
Full-text available
Neuralgic amyotrophy is a common peripheral nerve disorder caused by acute autoimmune inflammation of the brachial plexus. Subsequent weakness of the stabilizing shoulder muscles leads to compensatory strategies and abnormal motor control of the shoulder. Despite recovery of peripheral nerves and muscle strength over time, motor dysfunction often p...
Article
Full-text available
Objective: To investigate the effectiveness of Energetic, a self-management group program combining aerobic training, energy conservation management, and relapse prevention to improve social participation in patients with neuromuscular disease (NMD) and chronic fatigue. Methods: In this multicenter, assessor-blinded, 2-armed randomized controlle...
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Following publication of the original article [1], the authors reported that the headers in Table 2 in their paper were omitted.
Article
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Background: Neuralgic amyotrophy (NA) is a distinct peripheral neurological disorder of the brachial plexus with a yearly incidence of 1/1000, which is characterised by acute severe upper extremity pain. Weakness of the stabilising shoulder muscles in the acute phase leads to compensatory strategies and abnormal motor control of the shoulder - sca...
Article
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Background: Strength testing of the serratus anterior muscle with hand held dynamometry (HDD) in supine subjects has low reproducibility, and is influenced by compensatory activity of other muscles like the pectoralis major and upper trapezius. Previously, two manual maximum voluntary isometric contraction tests of the serratus anterior muscle wer...
Article
Background: Weakness caused by motor neuron degeneration in amyotrophic lateral sclerosis (ALS) may result in avoidance of physical activity, resulting in deconditioning and reduced health-related quality of life (HRQoL). Objective: To study the effectiveness of aerobic exercise therapy (AET) on disease-specific and generic HRQoL in ambulatory p...
Preprint
Background: Neuralgic amyotrophy (NA) is a distinct peripheral neurological disorder of the brachial plexus with a yearly incidence of 1/1000, characterised by acute severe upper extremity pain. Weakness of the stabilising shoulder muscles in the acute phase leads to compensatory strategies and abnormal motor control of the shoulder; scapular dyski...
Article
Full-text available
Purpose: To develop and evaluate an interdisciplinary group intervention for patients with myotonic dystrophy regarding healthy nutrition, meal preparation, and consumption, called Meet and Eat. Materials and methods: A design-based approach was used, exploring experiences and needs of patients with myotonic dystrophy and their next of kin. This re...
Article
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Background and objective: Non-invasive ventilation (NIV) is an established treatment for respiratory failure in patients with amyotrophic lateral sclerosis (ALS). Several studies have shown room for improvement with regard to respiratory care for ALS patients, including latency of referral. These studies focused on the time period starting at the...
Article
Background and objective: Non-invasive ventilation (NIV) is an established treatment for respiratory failure in patients with amyotrophic lateral sclerosis (ALS). Several studies have shown room for improvement with regard to respiratory care for ALS patients, including latency of referral. These studies focused on the time period starting at the...
Article
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KH176 is a potent intracellular redox‐modulating compound developed to treat mitochondrial disease. We studied tolerability, safety, pharmacokinetics, pharmacodynamics and efficacy of twice daily oral 100 mg KH176 for 28 days in a double blind, randomized, placebo‐controlled, two‐way cross‐over phase IIA study in 18 adult m.3243A>G patients without...
Article
Objective: To describe the clinical phenotype and recovery of diaphragm dysfunction caused by neuralgic amyotrophy in a large cohort of patients, to improve accurate awareness of this entity, and to encourage adoption of a standardized approach for diagnosis and treatment. Methods: This observational cohort study recruited adult patients with ne...
Article
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Purpose: There is lack of knowledge, evidence, and guidelines for rehabilitation interventions for persons with neuralgic amyotrophy (NA) or brachial plexus pathology. A first pilot study, evaluating the effect of an integrated rehabilitation programme, showed improvements in activity and participation levels. Aim: To gain insight, from the perspec...
Article
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Background Non-invasive ventilation (NIV) improves survival and quality of life in amyotrophic lateral sclerosis (ALS) patients. The timing of referral to a home ventilation service (HVS), which is in part based on respiratory function tests, has shown room for improvement. It is currently unknown which respiratory function test predicts an appropr...
Article
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Background More than half of the patients harbouring the m.3243A > G mutation were found to have trouble maintaining balance when walking in a recent study by our group. Others demonstrated that these patients had an abnormal gait pattern, as quantified by gait analysis. Gait analysis is an emerging method to quantify subtle changes in walking patt...
Article
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In patients with mitochondrial disease, fatigue and muscle problems are the most common complaints. They also experience these complaints during mastication. To measure endurance in continuous mastication in patients with mitochondrial diseases the 6-minute mastication test (6MMT) was developed. This study included the collection of normal data for...
Article
Objective: To assess the incidence of classic neuralgic amyotrophy (NA) in a primary care setting. Design: Prospective cohort study. Method: During the year 2012 we registered all new cases of neck, shoulder or arm symptoms from two large primary care centres serving a population of 14,118. Prior to commencing the study, general practitioners...
Article
This review provides a current overview of the clinical features, pathophysiology, epidemiology, and diagnostic and therapeutic strategies in neuralgic amyotrophy (NA). The disorder has several phenotypic variations, with a classic form in 70% of the patients. It is not rare, with an incidence ratio of 1 per 1000, but still often missed. Recurrence...
Article
Full-text available
Neuralgic amyotrophy is considered a rare peripheral nervous system disorder but in practice seems grossly under recognized, which negatively affects care for these patients. In this study we prospectively counted the one-year incidence rate of classic neuralgic amyotrophy in a primary care setting. In a prospective cohort study during the year 201...
Article
Background Chronic fatigue is present in more than 60% of the patients with a neuromuscular disease and can be their most disabling symptom. In combination with other impairments, fatigue often results in low levels of physical activity and decreased social participation, leading to high societal costs. ‘Energetic’ is a self-management group progra...
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Background: Individuals with a spinal cord injury (SCI) demonstrate altered circadian variation in thermoregulatory control. Recently, we reported that tetraplegia is associated with a blunted release of melatonin in the evening. In order to examine whether this finding relates to circadian thermoregulation, we compared the correlations between ev...
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Background: Neuralgic Amyotrophy (NA) is characterized by neuropathic pain, subsequent patchy paresis and possible sensory loss in the upper extremity. Many patients experience difficulties in performing activities of daily life and are unable to resume work. We developed a combined physical- and occupational therapy program for patients recoverin...
Chapter
This chapter focuses on regulatory mechanisms involved in the adjustments of the human body to orthostatic stress and role of capacitance vessels to orthostatic reflex adjustments. Orthostatic pooling of blood begins almost immediately upon the change from the supine to the upright posture. The main sensory receptors involved in orthostatic cardiov...
Article
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Individuals with a spinal cord injury (SCI), especially with tetraplegia, experience poor sleep quality, and this may be related to impaired control of circadian rhythmicity. Here, we examined the evening onset of melatonin secretion, an important hormone for the initiation of sleep, in people with a complete cervical (tetraplegia) and thoracic (pa...
Article
Background: Patients with Parkinson's disease (PD) are physically less active than controls, and autonomic dysfunction may contribute to this sedentary lifestyle. Specifically, an altered cardiovascular response to physical effort may restrict physical activities. Objective: To assess the cardiovascular responses to a submaximal exercise test in...
Article
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The pathophysiology of orthostatic hypotension in Parkinson's disease (PD) is incompletely understood. The primary focus has thus far been on failure of the baroreflex, a central mediated vasoconstrictor mechanism. Here, we test the role of two other possible factors: 1) a reduced peripheral vasoconstriction (which may contribute because PD include...
Article
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Maintaining blood pressure during orthostatic challenges is primarily achieved by baroreceptor-mediated activation of the sympathetic nervous system, which can be divided into preganglionic and postganglionic parts. Despite their preganglionic autonomic failure, spinal cord-injured individuals demonstrate a preserved peripheral vasoconstriction dur...
Article
To compare the effect of different sympathetic stimuli, that is, exaggerated sympathetic activity and orthostatic challenges, on the increase in leg vascular resistance in persons with spinal cord injury (SCI) without and controls with supraspinal sympathetic control. Case-control intervention study. Physiology research laboratory. Persons with SCI...
Article
Spinal cord-injured (SCI) individuals demonstrate an increased baseline leg vascular resistance (LVR). In addition, despite the lack of sympathetic control, an increase in LVR is observed during orthostatic challenges. On the basis of the vasoconstrictive characteristics of angiotensin II, we examined the hypothesis that angiotensin II contributes...
Article
Autonomic dysreflexia is a hypertensive episode in spinal cord-injured individuals induced by exaggerated sympathetic activity and thought to be α-adrenergic mediated. α-Adrenoceptor antagonists have been a rational first choice; nevertheless, calcium channel blockers are primarily used in autonomic dysreflexia management. However, α-adrenoceptor b...
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orthostatic hypotension is common in older men and associated with morbidity and mortality. During orthostatic challenges, older men maintain their blood pressure by an augmented increase in total peripheral resistance. Changes in the leg vascular bed contribute importantly to blood pressure regulation during orthostatic challenges, partly because...
Article
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Leg vascular resistance is calculated as the arterial-venous pressure gradient divided by blood flow. During orthostatic challenges it is assumed that the hydrostatic pressure contributes equally to leg arterial, as well as to leg venous pressure. Because of venous valves, one may question whether, during orthostatic challenges, a continuous hydros...
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Spinal Cord is the official journal of the International Spinal Cord Society. It provides complete coverage of all aspects of spinal injury and disease.
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To report a rare cause of spinal cord injury. Case report. A 36-year-old woman presented with acute onset of paresis of the upper and lower extremity (level C5, ASIA B) the day after delivering a healthy daughter (39 weeks' gestation). Prior to giving birth, she was admitted with gestational hypertension. Directly postpartum, blood pressure increas...