Variability and interrelationships of surface EMG parameters during local muscle fatigue.

The inter- and intraindividual variability of the frequency power density spectral and surface EMG amplitude parameters and of the muscle fiber conduction velocity (MFCV) is studied in 26 healthy volunteers during fatiguing isometric ischemic intermittent exercise of the m. biceps brachii at 80% of the maximal voluntary contraction level, with a contraction rate of 30/min. No significant age effects were found. Males were significantly stronger compared with females. The higher initial SEMG amplitude and the stronger shift of the frequency power density spectrum (PDS) to lower frequencies appear to be significantly correlated with males. Fatigue induces an almost proportional compression of the SEMG frequency content. The muscle fiber conduction velocity has the highest intraindividual reproducibility (r = 0.81). Despite the definite and strong influence of the MFCV on the PDS, the shift of the PDS can not be explained by a change of MFCV alone.

Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.

A patient with exertional rhabdomyolysis and continuously elevated serum creatine kinase (CK) was investigated. The known causes of recurrent attacks of rhabdomyolysis were ruled out by appropriate histochemical and biochemical investigations. During ischaemic exercise tests an abnormal K(+)-efflux from exercising muscles was observed. The patient was found to have a deficiency of muscular Ca(2+)-ATPase. Dantrolene sodium therapy gave relief of muscle symptoms and improved the exercise tolerance. Both the CK level and the K(+)-efflux in ischaemic forearm testing became normal on this therapy.

Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study.

Clinical, electroneurographic and myographic studies were performed on 99 patients of 13 families having hereditary neuropathy with liability to pressure palsies (HNPP) and on 116 relatives. Diagnosis was confirmed in all families by a nerve biopsy of the index case. Large focal myelin thickenings (tomacula) were found in nerve biopsies of affected persons, whether or not pressure palsies had occurred. By using three electroneurographical parameters it was possible to discriminate between asymptomatic patients and unaffected relatives. Complaints sometimes mentioned in literature as being associated with HNPP such as low back pain, brachialgia and short lasting paraesthesia are not related to HNPP. The hereditary transmission is autosomal dominant with total penetration but variable expression.

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a).

The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe features of HMSN I, and demonstrated the absence of this duplication by a quantitative analysis of the hybridization signals of VAW409R3 and VAW412R3. Linkage analysis, however, revealed linkage with probe VAW409R3a (lod score, 3.22), which demonstrates the existence of allelic heterogeneity within the HMSN Ia locus. These findings have implications for clinical practice and for investigating the identity of the HMSN Ia gene.

Familial adult-onset muscular dystrophy with leukoencephalopathy.

We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome.

Autosomal recessive form of hereditary motor and sensory neuropathy type I.

We studied pathologic changes in sural nerve biopsies from four patients with probable autosomal recessive (AR) hereditary motor and sensory neuropathy (HMSN) type I with a median motor nerve conduction velocity greater than 10 m/sec, comparing them with the pathologic features in autosomal dominant (AD) HMSN type I. The four recessive and two sporadic cases showed segmental demyelination. However, the classic onion bulbs of concentric Schwann cell processes, which occur in AD type I, were rare; many axons, also of a smaller size, were surrounded by onion bulbs of basal laminae. Schwann cells of the myelinated and unmyelinated types were involved in these onion bulb formations. Patients with HMSN type I who have many basal lamina onion bulbs should be considered as having AR inheritance.

Hereditary neuropathy with liability to pressure palsies in childhood.

Four children, index cases of families in which autosomal dominant neuropathy with liability to pressure palsies (HNPP) was diagnosed, are presented. Only one child was admitted for evaluation of an acute peroneal palsy, three presented with other symptoms. Polyneuropathy was diagnosed in all four children, in one of their parents and in some sibs. On inquiry, one child and several members of the four families had experienced transient palsies before. Morphological studies of the sural nerves showed frequently large tomacula and a neuropathic process of segmental de- and remyelination, and axonal degeneration. Attention is drawn to the atypical presentation without pressure palsies of HNPP.

Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I).

Seventeen cases of dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I) with infantile onset were studied. Not only clinical and electrophysiological data, but also the g ratio (axon diameter to fibre diameter), considered to be a distinguishing feature between HMSN type I and HMSN type III, showed overlap. Morphological and morphometrical investigations already revealed a lack of small and large diameter myelinated axons at an early stage, and a demyelinating process most active in early childhood followed later by axonal loss. It was concluded that the histopathology of HMSN type I cannot be sufficiently explained by axonal atrophy with secondary demyelination.

Muscle cramp as a feature of neuromuscular disease. Five neuromuscular disorders, accompanied by frequent muscle cramps.

Five case reports of neuromuscular disorders, presenting with frequent muscle cramps are discussed. Clinical diagnosis and pathophysiologic concepts are highlighted.

Cerebrotendinous xanthomatosis.

Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas. The presence of xanthomas usually leads to the diagnosis, and the reverse is probably also true: without xanthomas the diagnosis will often not be made. CTX may therefore be less rare than commonly thought, and the incidence of xanthomas in CTX may be overestimated. Four cases without xanthomas among the presenting symptoms are described, and the relevance of xanthomas in CTX is discussed.

Force and fatigue in human type I muscle fibres. A surface EMG study in patients with congenital myopathy and type I fibre predominance.

An isometric ischaemic intermittent m.biceps brachii exercise test is performed by 4 patients suffering from congenital myopathies which are characterized by a 100% type I fibre predominance, and by 26 healthy volunteers. Thirty contractions per minute are made at an 80% of maximal voluntary contraction level. It is found that type I muscle fibres have a fourfold lower force-generating capacity than type II muscle fibres. The EMG amplitude shows that more EMG voltage is needed per unit force in the patients with 100% type I fibres compared with controls. Under standardized fatiguing circumstances the power density frequency spectrum shows a weaker shift to lower frequencies in patients with 100% type I muscle fibres compared with controls. The muscle fibre conduction velocity (MFCV) of type I muscle fibres shows no decline during ischaemic exercise indicating an unimpaired muscle membrane excitability.

Myotonic dystrophy. Predictive value of normal results on clinical examination.

Myotonic dystrophy (DM) is well known for its highly variable clinical picture, including the age at which symptoms are first detected. In order to assess the proportion of asymptomatic gene carriers at different ages, we have used linked DNA markers to study individuals at 50% genetic risk of DM, in whom neurological examination, slit-lamp examination and electromyography (EMG) had failed to show diagnostic signs. A total of 139 asymptomatic offspring of DM patients were studied. Our analyses identified 11 out of these 139 as probable gene carriers. Our data show that penetrance of the DM gene increases with age. After correction for the possibility of genetic recombination between the DM gene and the DNA markers used, we calculated the residual chance of carrying the DM gene as 8.3% for clinically normal offspring aged between 20 and 39 yrs. We evaluated several factors that might influence this figure. Neither the sex of the propositus nor that of the affected parent modified the risk of carrying the DM gene. Presence of aspecific lens opacities also did not correlate with the risk of having inherited the DM gene. Since a significant proportion of DM gene carriers are not detected by neurological examination, including slit-lamp examination and EMG, these results confirm the need for DNA analysis in asymptomatic offspring of DM patients.

Fatigue in type I fiber predominance: a muscle force and surface EMG study on the relative role of type I and type II muscle fibers.

The relative proportions of fiber types within muscle and the characteristics of these fiber types are important determinants of the surface electromyogram (SEMG) during fatigue. In this study, patients suffering from congenital myopathy characterized by a strong type I fiber predominance were studied. Six patients with 95-100% type I fibers, 2 patients with 80% type I fibers, and 12 healthy volunteers participated in an ischemic, isomeric, intermittent exercise test of m. quadriceps femoris at 80% MVC. Considering the results of the morphometric analysis of muscle biopsy specimen and of the anthropometric estimated muscle-bone volume, it was found that type I muscle fibers had a lower force generating capacity than type II fibers. The initial conduction velocity along the muscle fiber membrane (MFCV) was low in patients with 95-100% type I fibers. During the ischemic exercise test, the 95-100% type I fibers showed less fatigability than type II fibers, which was reflected by a nearby absent decrease of the muscle membrane excitability as measured by the MFCV, and only a slight increase of the SEMG amplitude compared with patients having 80% type I fibers and controls. The absence of a definite MFCV decrease was related to the nearby lacking lactate formation in 95-100% type I fibers.

In vitro contraction test for malignant hyperthermia in patients with unexplained recurrent rhabdomyolysis.

A few cases of non-anaesthetic-induced rhabdomyolysis in humans, predisposed to malignant hyperthermia (MH), have been described in literature. We studied a group of 6 consecutive patients with unexplained and recurrent attacks of rhabdomyolysis with the test used to determine susceptibility to MH, the in vitro contraction test (IVCT). The results of the IVCT showed 5 of these 6 patients to be MH susceptible. In cultured muscle cells from one of these patients a disturbed calcium homeostasis could be demonstrated. The relation between MH and recurrent rhabdomyolysis is discussed.

Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood.

Eighteen cases of a chronic progressive motor and sensory neuropathy of neuronal type with early onset are described. Based on the presented data and literature reports a condition is distinguished, which is in clinical, genetic and morphological aspects different from autosomal dominant HMSN type II. The condition corresponds to that described by Ouvrier et al. (1981). It shows a congenital or early childhood onset and causes a severe disability usually with wheelchair dependency already in puberty or later in adult life. The condition is probably transmitted by an autosomal recessive gene. Morphological features of biopsied nerves are an extensive loss of large diameter fibres with a shift to smaller diameters in the histogram. Regenerative features are almost absent in contrast to the distinct cluster formation in autosomal dominant HMSN type II. A maturation disturbance of peripheral motor and sensory neurons with a concomitant or secondary process of chronic neuronal degeneration is suggested. One dominantly inherited case in our group with an infantile onset exhibits clinical and morphological features consistent with an autosomal dominant HMSN type II.

Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy.

The diagnostic value of axilla skin biopsy has been investigated in a patient with adult polyglucosan body disease. The biopsy data have been compared with those of control subjects and with those from previously reported patients with Lafora's disease. In a patient with adult polyglucosan body disease and in patients with Lafora's disease, an abundance of polyglucosan bodies was found in the myoepithelial cells of the axillary apocrine glands. In the control group of subjects, polyglucosan bodies were only sporadically seen. Axilla skin biopsy is, therefore, an easy and reliable method for confirming the diagnosis of adult polyglucosan body disease.

Sensory axonopathy in hereditary distal spinal muscular atrophy.

A girl of 14 year is presented with a distal spinal muscular atrophy (SMA) with autosomal recessive inheritance. The technical findings are in agreement with the diagnosis. Light microscopical examination of sural nerve biopsy, including teased fiber studies and morphometry, showed no abnormalities. Electron microscopical investigation however demonstrated axonal pathology. The question arises if distal SMA is a distal axonopathy mainly of motor nerves, but to some extent also of sensory nerves.