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PubMed1986

Origin and significance of small muscle fibres in neuromuscular disease.

Small muscle fibres, defined as those of less than 40 microns diameter in the male and 30 microns in the female were encountered in muscle biopsies of patients with spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), polymyositis (PM) and myopathy/dystrophy. Excessive reactivity with NADH-TR in small fibres did not discriminate between neurogenic and myopathic disorders. Quantification of perifascicular atrophic fibres, the number of nuclei in atrophic fibres, or the presence of isolated or grouped small fibres without histochemical kinship to their surrounding fibres did not aid recognition of the disease process in the groups studied. Small fibres which reacted strongly both with NADH-TR and ATPase at pH 9.4 (Type 3 fibres) constituted 38% of small fibres in the biopsies of SMA; 25% in ALS; but only 1% and 2.7% in PM and myopathy/dystrophy respectively. Thus, the presence of small Type 3 fibres in muscle biopsies may be a useful marker for neurogenic disorders in adults.

Adenosine Triphosphatases↗

PubMed1999

Transforming growth factor-beta2 is elevated in skeletal muscle disorders.

The transforming growth factor betas (TGF-betas) are multifunctional growth factors that act on both fibroblasts and myosatellite cells. In rodent models of muscle diseases, high levels of TGF-beta2 are expressed by myogenic cells. We have examined whether the expression of TGF-beta2 is also elevated in diseased human muscles. The disorders examined were Duchenne muscular dystrophy, myotonic dystrophy, myotubular myopathy, spinal muscular atrophy, and amyotrophic lateral sclerosis. The levels of TGF-beta2 immunoreactivity were elevated in atrophic, necrotic, and regenerating fibers and in fibers with central nuclei or cytoplasmic masses, irrespective of whether fibrosis was present. We therefore suggest that TGF-beta2 is important for muscle repair and that the presence of a TGF-beta within a muscle only leads to fibrosis if certain other factors are present.

Amyotrophic Lateral Sclerosis↗

PubMed2004

The prion protein in human neuromuscular diseases.

The basis of human prion diseases affecting the nervous system is accumulation of a disease-associated conformer (PrPSc) of the normal cellular prion protein (PrPC). Earlier studies demonstrated increased expression of PrPC in inclusion body myositis (IBM), dermato-, and polymyositis, as well as neurogenic muscle atrophy. To define the spectrum and reliability of PrPC immunoreactivity, its expression was examined systematically in a series of pathologically characterized muscular disorders by means of immunohistochemistry, confocal laser microscopy, and immunogold electron microscopy. Anti-PrPC immunolabelling of rimmed vacuoles was observed in IBM, inclusions of myofibrillary myopathy, targets, regenerating, and atrophic fibres, mononuclear cells, in addition to ragged red fibres in mitochondrial myopathies, and focal sarcolemmal immunostaining in non-diseased controls. Quantitative analysis demonstrated that, in neurogenic muscle lesions, anti-PrPC staining detects a significantly broader spectrum of fibres than anti-vimentin or anti-NCAM. In dystrophic muscle, PrPC expression was mainly restricted to regenerating fibres. In IBM, PrPC expression was not confined to rimmed vacuoles or vacuolated fibres and only a small percentage (7.1%) of rimmed vacuoles were PrPC positive. Ultrastructurally, PrPC was observed in the cytoplasm of lymphocytes, in the myofibrillar network of targets, and in rimmed vacuoles. Knowledge of disease circumstances with altered expression of PrPC is important in the setting of a potentially increased chance for extraneural PrPC-PrPSc conversion. In addition, our observations suggest that PrPC may have a general stress-response effect in various neuromuscular disorders.

Chronic Disease↗

PubMed2004

Brown-Vialetto-van Laere syndrome; the first Turkish case.

We describe a 14-year-old female patient with progressive ponto-bulbar palsy and deafness. The first symptom was present at the age of 9 as a difficulty in walking and then she was stable with mild clumsy walking till 14 year-old. It was noticed that she had rapidly progression gait disorder, hearing loss, difficulty in swallowing and speaking in a period of 2.5 months. Clinically, there were bilateral facial weaknesss, atrophic tongue with fasciculations, poor gag reflex, deafness, axial and appendicular hypotonia, severe muscular weakness involving muscles of neck, shoulder, and upper arms, hands with thenar and hypothenar amyotrophy. Hearing loss was documented by brainstem auditory evoked potentials. Other laboratory investigations, screening tests and imaging studing were normal. These clinical features are consistent with the Brown-Vialetto-van Laere syndrome.

Adolescent↗

PubMedDate not supplied

[State of the muscle motor neuron apparatus in rats with limited mobility].

Neurohistochemical examinations of the motor nerve endings in the soleus and gastrochemius muscles of rats kept from 7 to 65 days under hypokinetic conditions were performed. The study of the soleus muscle revealed changes which resulted in the formation of the so-called target fibers and partial death of muscle fibers as well as changes in the nerve endings. These changes seemed to be destructive throughout the 7-15-hypokinetic day period and reparative during 30-65 hypokinetic days. The study of the gastrochemius muscle, where atrophic changes normally developed, did not demonstrate any structural changes in motor patches. It is suggested that disorders in the motor nerve endings of the soleus muscle are induced by circulation disturbances in the muscular tissue at early hypokinesia.

Animals↗

PubMed2006

Why are elderly individuals at risk of nutritional deficiency?

The older population is the single largest demographic group at disproportionate risk of inadequate diet and malnutrition. Ageing is associated with a decline in a number of physiological functions that can impact nutritional status, including reduced lean body mass and a resultant decrease in basal metabolic rate, decreased gastric secretion of digestive juices and changes in the oral cavity, sensory function deficits, changes in fluid and electrolyte regulation and chronic illness. Medication, hospitalization and other social determinants also can contribute to nutritional inadequacy. The nutritional status of older people is an important determinant of quality of life, morbidity and mortality. This review critically examines the factors that contribute to the development of poor nutritional status in older people and considers the consequences of malnutrition.

Aged↗

PubMed2003

[Severe lead poisoning due to Ayurvedic indian plant medicine].

HISTORY AND CLINICAL FINDINGS: A 39-year-old woman with a history of slowly progressive muscular dystrophia was transferred to us for further evaluations of a hypochromic, microcytic anaemia. The patient complained about progressive muscle weakness, loss of appetite and constipation, sleep disorders as well as muscle and back pain. Clinical examination revealed a tetraparesis without any detectable muscle reflexes and atrophic muscles of the extremities. A bilateral radial paresis was found with a loss of power. INVESTIGATIONS: She presented with a hypochromic, microcytic anaemia with a haemoglobin of 7.9 g/dl. Re-evaluation of her peripheral blood smear showed basophilic stippling of the erythrocytes. Bone marrow biopsy revealed a marked dyserythropoiesis with 50% ring sideroblasts. After the examination of the bone marrow, the blood lead level was found to be grossly elevated up to 880 microg/l. DIAGNOSIS: Re-evaluation of the patient's history revealed that she had been to India for an Ayurvedic treatment approach to improve her muscle dystrophia. She had taken regularly 4 different natural plant pills which she had bought in an Ayurvedic health centre. Toxicologic analysis of these pills revealed one to have a lead concentration of 50.4 mg/g. TREATMENT AND COURSE: The patient was treated with 16 infusions of sodium-EDTA followed by a 4-week treatment with dimercaptopropionic acid orally. Her neurological condition improved and the radial paresis resolved gradually so that she could return to work. Her haematological parameters normalized. CONCLUSION: This case report underscores the importance, while asking patients for their drug history, to ask additionally if natural plant medicine is taken or applied regularly. The report reveals that Ayurvedic pills from India may have a high concentration of lead and may cause severe poisoning.

Adult↗

PubMed1997

Partial loss of NADPH-diaphorase/nitric oxide synthase-complex in amyotrophic lateral sclerosis and human type-II myofiber atrophy.

To substantiate the role of nitric oxide synthase type-I (NOS-I) in neurogenic muscular disorders we investigated human biopsy samples of type-II fiber atrophy and amyotrophic lateral sclerosis (ALS) by NOS-I immunoreactivity (-IR), NOS-associated NADPH-dependent diaphorase activity (NOSaD) and Western blot analysis. In type-II atrophy, loss of NOSaD and reduced NOS-I-IR was apparent in atrophic myofibers. In atrophic fiber groups lacking NOSaD, both NOS-I and dystrophin-IR was decreased while sarcolemmal beta-dystroglycan- and adhalin-IR (markers of the sarcolemmal dystrophin-glycoprotein complex) was normal. In ALS, groups of scattered angulated atrophic fibers revealed partial loss of NOS-I-IR/NOSaD. Atrophied fibers of either type-I or type-II thus revealed differential sarcolemmal NOS/NOSaD pattern thereby reflecting myopathological alterations of the NO-system in human type-II atrophy and ALS.

Adult↗

PubMed2004

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.

We describe clinical and muscle magnetic resonance imaging (MRI) findings in 11 cases (three familial and eight sporadic) with the form of spinal muscular atrophy characterised by predominant involvement of the lower limbs with weakness of the proximal and distal muscles and marked atrophy of the distal leg and foot muscles. All patients presented at birth with talipes, which were in extension in seven of the 11. Arm muscle and function were preserved and lower limbs appeared to be disproportionately shorter compared to trunk and upper limbs. Functional abilities were markedly affected and only one of the 11 is able to walk independently for long distances, while six require support of crutches and two use callipers for walking. One child lost ambulation following a fall. The course of the disease is relatively stable and the progression of disability appeared to be related mostly to increased contractures rather than to loss of muscle strength. Respiratory and cardiac function were well preserved. A neurogenic disorder was suggested by electromyography and/or muscle biopsy in all patients, while motor nerve conduction was consistently normal. Muscle MRI of the thighs revealed diffuse atrophic appearance with relative hypertrophy of the adductor longus and of the semitendinosus. Genetic studies excluded the involvement of the survival motor neuron gene but none of these families was sufficiently informative to study linkage to the locus on chromosome 12q23-q24 previously found to be involved in patients with similar phenotype. In our experience this form of spinal muscular atrophy affecting predominantly the lower limbs is a relatively common form and should be considered in the differential diagnosis of infants with talipes and weakness in the lower limbs. The identical clinical and imaging features of the sporadic and familial cases suggest that these cases are likely to be affected by the same condition.

Adolescent↗

PubMed2003

Diagnosis and treatment of oculopharyngeal dystrophy: a report of three cases from the same family.

Oculopharyngeal muscular dystrophy is a hereditary pathology transmitted in an autosomal dominant manner. The clinical symptoms are palpebral ptosis, oropharyngeal dysphagia and proximal limb weakness. Upper gastro-esophageal endoscopy is recommended to study the dysphagia, a video-radiology study with barium and an esophageal manometry to study the pharyngeo-esophageal motor disorder. Muscle biopsy reveals the presence of atrophic fibers substituted by an increase in fat and connective tissue. In 1998 Brais described the genetic alteration responsible for this pathology, a limited expansion of the triplet of GCG nucleotides in PABP2 gene on chromosome 14q11. Normal individuals have the homozygotic form (GCG)6 of this triplet, whereas patients with the described syndrome have the heterozygotic form (GCG)6-(GCG)9 or (GCG)6-(GCG)10. We present three siblings from the same family with diagnoses and genetic confirmations of oculopharyngeal dystrophy. Two of the patients underwent cricopharyngeal myotomy to relieve the dysphagia.

Aged↗

PubMed1990

[Oculopharyngeal muscular dystrophy in a Japanese family].

The first instance of familial oculopharyngeal muscular dystrophy (OPMD) affecting a Japanese family is reported. Three patients (a 62-year-old female, her sisters 66-year-old and 53-year-old) were described with suspicious other 2 cases. A 62-year-old woman (case 1) developed bilateral blepharoptosis at the age of 52. Then she became aware of difficulty in swallowing solid foods, had developed a nasal voice and aspiration of liquids. On admission, neurological examination revealed moderate bilateral blepharoptosis, nasal voice, dysphagia and hyporeflexia of the pharynx. There was mild weakness of the muscles of the temporalis, masseter, face, neck and proximal portions of the upper limbs. The levels of serum creatine phosphokinase, lactic acid and pyruvic acid were normal. Tensilon test was negative. The needle EMG showed a myogenic pattern with no waning phenomenon. Nasopharyngeal fiberscopy, laryngoscopy, esophageal fluoroscopy and hydrodynamic examination showed dyskinesis of the soft palate, retention of saliva in recessus piriformis and streaming into the larynx. Cricopharyngeal myotomy was performed for the purpose of relieving the dysphagia. The muscles were obtained from cricopharyngeus of both sides during surgery, and right deltoid muscle in biopsy. The muscles of sternohyoideus and deltoideus showed myogenic changes, and some fibers with rimmed vacuoles especially in small angulated fibers under the light microscope. Whereas the crycopharyngeus showed dystrophic change, which was apparent in the right side. There were also nemaline rods found in a few fibers undergoing necrosis. ATPase preparations revealed type 1 predominant in cricopharyngeus and type 2 predominant in sternohyoideus. Most atrophic fibers were in type 1 fibers.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗

PubMed1993

Dystrophin-related protein in skeletal muscles in neuromuscular disorders: immunohistochemical study.

Thirty-four biopsied muscles of Duchenne, Becker and congenital muscular dystrophy, congenital myotonic dystrophy and amyotrophic lateral sclerosis were examined by an immunocytochemical method with an anti-dystrophin-related protein (DRP) antibody. Strongly positive immunoreaction to DRP at the neuromuscular junctions in all biopsied specimens and faint reaction on the surface membrane of atrophic fibers in amyotrophic lateral sclerosis suggest that DRP is an anchor protein of the acetylcholine receptor. Additionally, the surface membrane of muscle fibers of Duchenne muscular dystrophy was positively stained. DRP is, therefore, thought to be expressed to compensate for dystrophin deficiency in these muscle fibers.

Amino Acid Sequence↗

PubMed2001

[Controlled dynamic weight training in patients with neuromuscular disorders].

The question posed was whether individually adapted, controlled dynamic weight training, in accordance with training principles and methods from sports science, applied for a limited time, can lead to an improvement in the stimulation and release of muscular strength in patients with neuromuscular disorders. The muscles of the pelvic girdle and the lower extremity of 10 patients (5 with dystrophic muscle disease and 5 with neurogenic muscular atrophy) were exercised provisionally for a period of 6 weeks on various weight training machines. The training routine was 3 sessions (TS) per week at an intensity range of 40-60% of the respective best performance for the exercise (One Repetition Maximum; ORM), at 8-12 repetitions/set and 2-4 sets/exercise. Body weight and ORM were determined before, during and after the training period (TP), the different load criteria/TS were documented. It was possible to train the patients in accordance with principles of training known from sports science. Over the entire TP it was possible to increase the load criteria significantly (p < 0.01). The ORM had increased considerably in all exercises after the TP (p < 0.01). The changes in strength lay between 11 and 95%. Correlation analyses demonstrated that the percentage changes in strength correlated significantly (p < 0.01) and positively (r = 0.87) with the training load in terms of quality. No significant changes in development of strength could be ascertained between the two groups of patients (dystrophic versus atrophic). The individually adjusted, controlled dynamic weight training described above, leads to an increase in the stimulation and release of strength and can be conducted according to principles of training science. Applied in clinical rehabilitation, it represents a supplementary form of therapy in the symptomatic treatment of neuromuscular disorders.

Adult↗

PubMed2005

Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.

To better elucidate the pathogenesis of lymphocyte recruitment of memory CD4(+) T cells in inflammatory myopathies, we studied the expression of CCR5 and CCR7 on CD4 memory T cells in muscle tissue from 11 patients with juvenile dermatomyositis, six adult patients with polymyositis, two patients with Duchenne muscular dystrophy, and two patients with spinal muscular atrophy. A prevalent infiltration of CCR5(+) effector CD4 T memory cells is observed in inflammatory myopathies. Moreover, we found a strong expression of CCR7 in perifascicular atrophic and in degenerating/regenerating muscle fibers in juvenile dermatomyositis (JDM) but not in fibers from adult polymyositis and Duchenne muscular dystrophy. The selective expression of CCR7 in JDM may open new perspectives in the understanding of the pathogenesis of inflammatory myopathies, offering a new tool for the differential diagnosis of these disorders.

Cells, Cultured↗

PubMed1991

Muscle histology in Becker muscular dystrophy.

Twenty patients with Becker muscular dystrophy (BMD), confirmed by dystrophin tests, were studied histologically. There were several morphological differences between younger (less than or equal to 15-year-old) and older (greater than 15-year-old) patients. In the younger patients, active muscle fiber necrosis followed by a regenerating process was conspicuous. In the older patients, the active degenerative changes appeared less prominent and, instead, more chronic myopathic changes such as moth-eaten fibers, fiber splitting, and hypertrophic fibers were evident. These age-dependent differences in the pathology of BMD were irrespective of the duration of clinical symptoms, i.e., BMD patients of a similar age showed a similar morphological feature regardless of age at onset. Although the presence of mild fiber type grouping and some small angulated atrophic fibers suggested a certain degree of neurogenic involvement, none of biopsies showed significant grouped atrophy as seen in neuropathic disorders. There was no correlation between the histological changes and the specific dystrophin abnormality.

Adolescent↗

PubMed1995

Inherited muscular disorder in mutant Japanese quail (Coturnix coturnix japonica): relationship between the development of muscle lesions and age.

The progression of the pathological changes that occur in the skeletal muscle was examined in 19 Japanese quail of the LWC strain, affected with an autosomal dominant inherited muscular disorder producing electrical myotonia. The muscle samples were obtained every 10 days from 20 to 70 days of age. Muscle samples from 18 age-matched commercial quail were used as normal controls. Characteristic histological lesions found in the skeletal muscles included sarcoplasmic masses, ringed fibres, internal migration of nuclei and fibre size variation. These lesions, which mainly occurred in the proximal muscles, appeared first in the pectoral region and later in the muscles of the thoracic and pelvic limbs. The most predominant lesion observed at all ages consisted of sarcoplasmic masses. The presence of histological changes did not affect muscle fibre typing by two staining methods, for myosin ATPase at pH 4.5, and by NADH-TR stain. The histological changes were observed in type 2A and less commonly in 2B fibres, but not in type 1. The pectoralis thoracicus muscle, in which lesions were particularly common, showed abnormally large type 2B muscle fibres at 20 days of age. These fibres began to decrease in size at 30 days of age, and at 70 days had become strikingly atrophic, their diameter being only about half that observed at 20 days. The atrophic type 2B muscle fibres were eventually replaced by lipocytes. Chronological staging of the histopathological changes in muscle was impossible since no inter-relationship was observed between the age of the quail, the severity of clinical signs and the extent of muscle lesions. This variability in the severity and age of onset may have been due to the variable expression or incomplete penetrance of the defective gene. Because the disorder is hereditary and progressive in nature, it can be classified as a type of progressive muscular dystrophy.

Aging↗

PubMedDate not supplied

[Progressive familial myoclonic epilepsy with bulbo-spinal amyotrophy. Clinical, electrophysiological study, and biopsy of a case].

Two brothers with Progressive myoclonic epilepsy and Juvenile bulbar and spinal atrophy had clinical, neurophysiological study and muscle biopsy. The EEG and polygraphic findings included progressive slowing of the background activity, spontaneous fast generalised spike- and wave discharges and photosensitivity. The EMG revealed pathological spontaneous activity as well as motor unit potentials diminished in number and increased in amplitude and duration; while VDCS and VDCM were normal. Results of muscle biopsy showed no represented "ragged red fibers" with the modified Trichrome stain, while grouped small caliber angular fibers of both histochemical type were visible with the myofibrillar ATPase reaction, but type 2 fibers predominated amongst the atrophic ones. Serum and urine metabolic measurement and lysosomal enzyme activities in leukocytes were all normal. We feel that the reported case might represent a familial syndrome not previously recognized showing non-specific degenerative changes with neuropathological examination. This disorder is similar only to the case reported by Lance J.W. and Ewans W.A. in 1984 "Progressive myoclonic epilepsy, nerve deafness and muscular atrophy".

Adenosine Triphosphatases↗

PubMed1989

Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases.

With few exceptions, epidermolysis bullosa (EB) simplex is an autosomal dominant disorder characterized by rather localized and recurrent nonscarring blister formation; mucous membranes and other organs are usually uninvolved. Recently, two patients were described with an autosomal recessive form of EB simplex associated with muscular dystrophy. We now describe four additional patients with autosomal recessive EB simplex, three of whom had associated muscular dystrophy or congenital myasthenia gravis. These patients had generalized cutaneous findings, including milia, atrophic scarring, nail dystrophy, and scalp alopecia, which have been classically attributed to either junctional or dystrophic EB. Each patient had significant oral cavity involvement, and in two, marked growth retardation and anemia were also present. Our findings suggest that autosomal recessive EB simplex may be characterized by rather severe cutaneous and extracutaneous disease activity, and may be associated with at least two distinct neuromuscular diseases.

Adult↗