We investigated the symptoms, course and prognosis of neuralgic amyotrophy (NA) in a large group of patients with idiopathic neuralgic amyotrophy (INA, n = 199) and hereditary neuralgic amyotrophy (HNA, n = 47) to gain more insight into the broad clinical spectrum of the disorder. Several findings from earlier smaller-scale studies were tested, and for the first time the potential differences between the hereditary and idiopathic phenotypes and between males and females were explored. Generally, the course of the pain manifests itself in three consecutive phases with an initial severe, continuous pain lasting for approximately 4 weeks on average. Sensory involvement was quite common and found in 78.4% of patients but was clinically less impairing than the initial pain and subsequent paresis. As a typically patchy disorder NA can affect almost any nerve in the brachial plexus, although damage in the upper and middle trunk distribution with involvement of the long thoracic and/or suprascapular nerve occurred most frequently (71.1%). We found no correlation between the distribution of motor and sensory symptoms. In INA recurrent attacks were found in 26.1% of the patients during an average 6 year follow-up. HNA patients had an earlier onset (28.4 versus 41.3 years), more attacks (mean 3.5 versus 1.5) and more frequent involvement of nerves outside the brachial plexus (55.8 versus 17.3%) than INA patients, and a more severe maximum paresis, with a subsequent poorer functional outcome. In males the initial pain tended to last longer than it did in females (45 versus 23 days). In females the middle or lower parts of the brachial plexus were involved more frequently (23.1 versus 10.5% in males), and their functional outcome was worse. Overall recovery was less favourable than usually assumed, with persisting pain and paresis in approximately two-thirds of the patients who were followed for 3 years or more.

The aim of this study was to investigate local muscle O(2) consumption (muscV(O(2))) and forearm blood flow (FBF) in resting and exercising muscle by use of near-infrared spectroscopy (NIRS) and to compare the results with the global muscV(O(2)) and FBF derived from the well-established Fick method and plethysmography. muscV(O(2)) was derived from 1) NIRS using venous occlusion, 2) NIRS using arterial occlusion, and 3) the Fick method [muscV(O(2(Fick)))]. FBF was derived from 1) NIRS and 2) strain-gauge plethysmography. Twenty-six healthy subjects were tested at rest and during sustained isometric handgrip exercise. Local variations were investigated with two independent and simultaneously operating NIRS systems at two different muscles and two measurement depths. muscV(O(2)) increased more than fivefold in the active flexor digitorum superficialis muscle, and it increased 1.6 times in the brachioradialis muscle. The average increase in muscV(O(2(Fick))) was twofold. FBF increased 1.4 times independent of the muscle or the method. It is concluded that NIRS is an appropriate tool to provide information about local muscV(O(2)) and local FBF because both place and depth of the NIRS measurements reveal local differences that are not detectable by the more established, but also more global, Fick method.

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Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP 27), due to mutations in its gene. In this study we report on mutations in 58 patients with CTX out of 32 unrelated families. Eight of these were novel mutations, two of which were found together with two already known pathogenic mutations. Twelve mutations found in this patient group have been described in the literature. In the patients from 31 families, mutations were found in both alleles. In the literature, 28 mutations in 67 patients with CTX out of 44 families have been described. Pooling our patient group and the patients from the literature together, 37 different mutations in 125 patients out of 74 families were obtained. Identical mutations have been found in families from different ethnic backgrounds. In 41% of all the patients, CYP 27 gene mutations are found in the region of exons 6-8. This region encodes for adrenodoxin and haem binding sites of the protein. Of these 125 patients, a genotype-phenotype analysis was done for 79 homozygous patients harbouring 23 different mutations, out of 45 families. The patients with compound heterozygous mutations were left out of the genotype-phenotype analysis. The genotype-phenotype analysis did not reveal any correlation.

Objective: To assess the prevalence of severe fatigue and its relation to functional impairment in daily life in patients with relatively common types of neuromuscular disorders. Methods: 598 patients with a neuromuscular disease were studied (139 with facioscapulohumeral dystrophy, 322 with adult onset myotonic dystrophy, and 137 with hereditary motor and sensory neuropathy type I). Fatigue severity was assessed with Checklist Individual Strength (CIS-fatigue). Functional impairments in daily life were measured with the short form 36 item health questionnaire (SF-36). Results: The three different neuromuscular patient groups were of similar age and sex. Severe experienced fatigue was reported by 61-74% of the patients. Severely fatigued patients had more problems with physical functioning, social functioning, mental health, bodily pain, and general health perception. There were some differences between the three disorders in the effects of fatigue. Conclusions: Severe fatigue is reported by the majority of patients with relatively common types of neuromuscular disorders. Because experienced fatigue severity is associated with the severity of various functional impairments in daily life, it is a clinically and socially relevant problem in this group of patients.

A B S T R A C TThe influence of adipose tissue thickness (ATT) on near-IR spectroscopy (NIRS) measurements in vivo was studied in the human flexor digitorum superficialis muscle at rest and during sustained isometric handgrip exercise. NIRS was used for the quantitative measurement of muscle O 2 consumption (mV c O 2 ) and forearm blood flow (FBF) in 78 healthy subjects. Skinfold thickness ranged from 1.4 to 8.9 mm within the group. Resting mV c O 2 was 0.11p0.04 ml of O 2 :min − 1 :100 g − 1 , and FBF was 1.28p0.82 ml:min − 1 :100 ml − 1 . There was a negative correlation (r lk0.70, P 0.01), indicating a decrease in mV c O 2 with increasing ATT. mV c O 2 in the 10 leanest subjects appeared to be twice as high as that in the 10 subjects with the highest ATT. A poor correlation (r l 0.29, P 0.01) was found between ATT and FBF. The gender difference that we found for mV c O 2 was due to the difference in ATT between female and male subjects. No correlation was found between maximum voluntary contraction and mV c O 2 , nor between maximum voluntary contraction and ATT, indicating that the contraction force did not confound our results. These results show that ATT has a substantial confounding influence on in vivo NIRS measurements, and that it is essential to incorporate this factor into future NIRS muscle studies in order to justify comparisons between different groups. To facilitate such comparisons, upper and lower boundaries for normal values of mV c O 2 and FBF in relation to ATT are presented. 1 These authors contributed equally to this study.