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[Hypothyroid hypertrophic myopathy following mantle irradiation for Hodgkin's disease. A case].

The authors report a case of hypothyroid hypertrophic myopathy consecutive to mantle irradiation for Hodgkin's disease. A rise in TSH level is frequent after mantle irradiation and it justifies prolonged monitoring of these patients' thyroid function, in view of the risk of patent hypothyroidism and perhaps cancer. The patient's age, the pre-irradiation lymphography and the chemotherapy associated with radiotherapy are all factors that influence the incidence of thyroid dysfunction, but there is no agreement concerning their relative importance. Hypertrophic myopathies due to hypothyroidism are rare, and their dramatic clinical presentation contrasts with an almost normal muscle histology. Alterations of energy metabolism and changes in the properties of myosin induced by hormonal deficiency account for the muscular weakness of these patients. On the other hand, the mechanism of muscle hypertrophy remains controverted, the most probable theory being and increase in the number of myotubes. Following irradiation, notably for Hodgkin's disease, the frequency of hypothyroidism requires a regular and systematic laboratory follow-up. Replacement therapy must be instituted if the basal TSH level increases, even if the T4 level is normal.

Adult↗

PubMed2000

[A case of spinal muscular atrophy with marked calf hypertrophy and adolescent onset].

We report on a 41-year-old male patient with spinal muscular atrophy (SMA). He had slowly progressive muscular weakness and hypertrophic calves since 14 years of age. The upper arms were slightly, and the thighs moderately atrophic, but the calves were remarkably hypertrophic. There was muscle weakness of both the upper and lower limbs, being more proximal in distribution. He had a positive Gowers' sign and his gait was slightly waddling. Serum creatine kinase level was elevated (518IU/l). Electromyogram revealed a neurogenic pattern. Muscle biopsy of the left biceps brachii showed chronic neurogenic changes. Immunohistochemical examination and Western blot analysis using anti-dystrophin antibodies showed no abnormality. DNA analysis with multiplex PCR proved no deletion in the dystrophin gene, while deletions of exons 7 and 8 of the telomeric copy of survival motor neuron gene were detected. In 1978, Pearn et al. described a new variant syndrome of SMA, characterized by adolescent onset, gross hypertrophy of calves, and a slowly progressive clinical course. The present case is compatible with this syndrome. Therefore, it is suggested that this syndrome, mimicking Becker muscular dystrophy, is not an independent clinical entity, although the phenotype of this syndrome is different from that of typical SMA.

Adolescent↗

PubMed1999

CTG-repeat length in distal and proximal leg muscles of symptomatic and non-symptomatic patients with myotonic dystrophy: relation to muscle strength and degree of histopathological abnormalities.

Myotonic dystrophy (DM) is an autosomal dominant, multisystemic disorder with a variable phenotypic expression including muscle weakness and myotonia. The muscle wasting is most marked in distal limbs and in facial and neck muscles, although proximal limb muscles become affected as the disease progresses. The CTG-trinucleotide-repeat expansion associated with myotonic dystrophy is usually larger in muscle tissue than in leukocytes. It is unclear whether the repeat length itself bears any relation to the differences in the degree of weakness and atrophy between different muscles. We therefore analysed CTG-repeat lengths in blood and in proximal (m. vastus lateralis) and distal (m. tibialis anterior) muscles of patients with DM (n = 4) and non-symptomatic carriers of the mutant DM allele (n = 2) using conventional Southern blot hybridization. Muscle strength and histopathological abnormalities were evaluated for each muscle. In patients with clinical symptoms, the degree of paresis and morphological abnormalities was markedly more pronounced in m. tibialis anterior than in m. vastus lateralis. In these individuals, the CTG-repeat length was larger in muscles than in leukocytes, whereas in the two non-symptomatic carriers no difference could be detected. Furthermore, there was no clear difference in the repeat length between the two muscles in any of the patients. In conclusion, the selective muscular weakness and atrophy in DM do not seem to be related to differences in CTG-repeat length between different muscles.

Adult↗

PubMed2000

Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy.

Deterioration of respiratory function in patients with neuromuscular disorders is primarily responsible for the high mortality associated with these diseases. A review of Duchenne muscular dystrophy and spinal muscular atrophy, the leading neuromuscular disorders affecting children, will be followed by a critical analysis of the various pathophysiological mechanisms underlying respiratory manifestations in these patients. Among such mechanisms, the role of muscular weakness in preservation of lung function, mucociliary clearance, gas exchange at rest and during exercise, and respiratory control during wakefulness and sleep will be examined in detail. In addition, the potential benefits of respiratory muscle training and of early diagnosis and clinical intervention will be delineated. This review underscores the importance of periodic assessment of pulmonary function during wakefulness and sleep in children affected by neuromuscular diseases as an essential component of multidisciplinary care aimed at improving long-term morbidity, survival, and quality of life.

Humans↗

PubMed1991

[Exercise-induced myalgia and high CKemia with a deletion in the dystrophin gene].

A 30-year-old man showed exercise-induced myalgia, calf muscle hypertrophy and high serum creatine kinase level, without muscular weakness. The symptoms began in childhood and did not progress. Electromyographic findings were consistent with myopathy, and the muscle histology showed nonspecific myopathic changes without evidence of storage of glycogen or lipid. Immunohistochemical staining with antibodies raised against three different dystrophin peptides revealed proper subcellular localization of dystrophin at the sarcolemma of all myofibers, but the intensity of the stain was decreased. Western blot analysis using the same antibodies revealed normal dystrophin in size, but showed the reduced amount of the protein. The DNA obtained from the patient's peripheral leukocyte showed a deletion of the dystrophin gene including exon 45 by using PCR technique. Though the detailed size and portion of the deleted gene are not ascertained, the deletion in this case may not severely affect the function of dystrophin, unlike cases of Duchenne or Becker muscular dystrophy. Dystrophin analysis is useful for the etiologic diagnosis in cases of myalgia and high CKemia.

Adult↗

PubMed1987

[Diagnostic usefulness of a hot test in patients with mild ocular myasthenia gravis].

The diagnosis of myasthenia gravis (MG) can usually be made on the basis of the characteristic clinical history and signs, improvement by the use of anticholinesterase drugs, decremental responses in repetitive nerve stimulations, and assay of anti-acetylcholine receptor (AchR) antibody titers. We, however, have difficulty to make diagnosis of ocular MG patients with mild symptoms because muscular weakness is minimal and ancillary tests are negative. In the present communication, we report clinical usefulness of a hot test to provoke ptosis by warming the eyelid in ocular MG patients with minimal fatigability. Patient 1, a 27-year-old housewife, developed drooping of the right upper eyelid in May 1985. The ptosis was absent in the morning, but became apparent and worsened later. Neurological examination carried out 3 months after the onset revealed mild right ptosis, but fatigability of the levator palpebrae superioris could not be elicited by the provocative procedures such as sustained upward gaze or repeated opening and closing of eyelids. Both Tensilon and cold tests yielded negative responses. Repetitive nerve stimulations produced no decremental responses. Titers of anti-AChR antibody and antistriational antibody were within normal limits. In order to find a possible neuro-muscular blockade, we warmed the right upper eyelid by applying hot water of about 45 degrees C in a vinyl bag for 3 minutes. The hot test worsened the right ptosis and induced mild left ptosis. Tensilon administration reversed the eyelids to the previous position. Patient 2 was a 12-year-old boy with a typical history and clinical signs of ocular MG. His symptoms remitted spontaneously without any medication 3 weeks after the onset.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1993

Foot and ankle manifestations of Charcot-Marie-Tooth disease.

The term Charcot-Marie-Tooth disease represents a spectrum of neurological dysfunction more recently described as hereditary motor-sensory neuropathies. An abnormality of myelination is thought to be responsible for the clinical manifestations. While histological findings have been well described, the exact biochemical basis for this disorder remains unknown. Over one half of patients with Charcot-Marie-Tooth disease manifest foot and ankle problems, including pain, weakness, deformity, and, rarely, paresthesias. Characteristic patterns of neuromuscular weakness have been identified. Bilateral pes cavovarus is the most common pathologic foot deformity seen. The specific components include hindfoot varus, anterior or forefoot cavus, and, often clawtoes. The etiology of this abnormal foot posture usually results from tibialis posterior overpowering peroneus brevis coupled with peroneus longus overpowering tibialis anterior. Multiple treatment options have been described. Rationale for specific tendon transfers, soft tissue release, osteotomies, and arthrodesis is discussed. Results of surgical intervention are difficult to interpret and compare because of the wide spectrum of both neurological dysfunction and described operative procedures. In the presence of flexible deformity, early soft tissue release and tendon transfers may help prevent or delay more extensive bony procedures. The clinical results of triple arthrodesis in the Charcot-Marie-Tooth disease patient appear to deteriorate with time. Genetic transmission, progression of the neurological dysfunction, flexibility of the deformity, distribution of muscular weakness, and anticipated foot demands vary a great deal within this patient population. Treatment decisions, therefore, must be individualized and based upon a clear history, careful examination, and well-defined patient goals.

Ankle Joint↗

PubMed1991

[A case of lead neuropathy--importance of subclinical entrapment of nerves in lead neuropathy].

The patient was a left handed 25-year-old man who had worked in a vinyl chloride resin factory since July 1987 using lead stearate as a stabilizer. During the two years preceding hospitalization, he had been admitted three times for colicky abdominal pain with constipation and nausea. Anemia and proteinuria without causative diseases were pointed out. Because of progressive muscle weakness of hands which began since January 1989, he was admitted to our neurologic clinic on October 2 1989. Neurological examination showed severe atrophy of both small hand muscles without sensory disturbances. Left hand was predominantly affected, especially in interossei muscles. Laboratory findings are as follows; RBC 3.25 million/cu.mm: Hb 9.7 g/dl:blood lead concentration 100 micrograms/dl: urinary coproporphyrin 4503 micrograms/l: urinary delta-ALA 138 mg/l: and urinary lead excretion after 1 g CaEDTA infusion: 3938 micrograms/day. Electromyography of extensor carpi radialis, flexor carpi ulnaris and opponens showed increased polyphasic, long duration MUPs. Electromyography of dorsal interossei showed fibrillation. Nerve conduction study showed mildly decreased motor and sensory conduction velocities and markedly reduced amplitude of compound muscle action potentials (CAMPs). Investigation by inching method revealed conduction block of left ulnar nerve across elbow. After CaEDTA chelating therapy, 1 g once a week, steady improvement of muscular weakness was observed within a few months. Serial nerve condition studies revealed constant recovery of nerve conduction velocities, amplitude of CMAPs and diminution of conduction block across the left elbow. Conduction block across left elbow without sensory disturbances implies that subclinical cubital tunnel syndrome might have existed in this patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1980

"Carnitine deficient" myopathy and cardiomyopathy with fatal outcome.

A 13-year-old boy with a mild limb girdle muscular weakness had a massive rhabdomyolysis and cardiac arrest after general anesthesia. A congestive cardiomyopathy then developed. Muscle biopsy revealed an unspecific "myopathic" degeneration of muscle fibers and a slight accumulation of lipid droplets. Carnitine content was markedly reduced in muscle and moderately in plasma. Both prednisone and carnitine therapies were unable to improve the heart insufficiency, and the patient died 1 year after the acute episode of rhabdomyolysis.

Adolescent↗

PubMed1997

[Multifocal motor neuropathies with conduction blocks. 39 cases].

Clinical, biological and electrophysiological features from a cohort of 39 multifocal motor neuropathies with conduction blocks (NMM with CB) have been studied. There were 29 males and 10 females with an average of 47.3. At the first evaluation, the mean duration of the symptoms was of 8 years with extremes between 1 and 28. Pain and paresthesias were present in respectively 10 and 18 p. 100 of the patients. Fasciculations and cramps were observed in more than 2/3 of the cases. Three patients had tremor at rest. Upper limb muscular weakness was the predominant initial symptom (84.6 p. 100). The weakness always affected distal and unilateral muscles. Radial and cubital nerve distribution are mainly affected and in half of the cases an unilateral motor deficit in the lower limb was associated. Muscle atrophy was frequent (74 p. 100) and rapidly developed in the first 2 years. Reflexes were decreased or absent in 64 p. 100. In 78 p. 100 of cases, biological study showed normal serum immunoelectrophoresis and CSF. IgM anti-GM1 antibodies were found in 24/36 patients. Very high titres were found in 5 cases. All patients had CB in upper limbs. The preferential localizations of the CB were equally at the median and ulnar nerves. Only 7 patients had CB localized to the lower limbs. In many cases, marked reduction of the motor amplitude prevented the detection of CB, marked reduction of the motor amplitude prevented the detection of CB. Moderate fibrillation potentials were found in 28 p. 100 of patients. Giant muscular unit potentials were frequent (21/39). F-waves in nerve with CB were always abnormal with marked increased latencies. Late responses sometimes seemed to be repeater F-waves. Axon reflexes were detected in 5 cases. The late responses abnormalities could precede the block. Clinical, biological and electrophysiological described arguments could may distinguish NMM with CB from motor neuron disease and relate them to the group of chronic demyelinating neuropathies.

Adult↗

PubMed2006

[Polymyalgia rheumatica].

Polymyalgia rheumatica is a disorder that affects people over 50 years of age. The etiology of the disease has not been hitherto clarified exactly. Its incidence among people over 50 is in the range of 0.1-0.5%. The incidence rate peaks in the age group of 60-70 years. It is also found in younger people, but far less frequently. The diagnosis is based primarily on locomotor complains--namely on pronounced pain, morning stiffness of the shoulder girdle, pelvic girdle and neck. Complaints relating to the arms and legs (such as muscular weakness, oedema, tendonitis etc.) are also observed, however, in one third of the cases. The diagnostic criteria are defined empirically. Polymyalgia rheumatica was formerly considered to be a form of elderly onset rheumatoid arthritis. The progressive erosion process is absent in the case of polymyalgia rheumatica unlike in the case of rheumatoid arthritis. Numerous factors are known, which point to a link between polymyalgia rheumatica and giant cell vasculitis, arthritis, but the precise nature of this relationship remains unknown. Both conditions affect the same age group in the general population and they are even found--not infrequently--in the same patient. Polymyalgia rheumatica can be found in 40% of the patients suffering from arthritis while the histological examination detected mild vasculitis in approximately 10% of the patients suffering for "isolated" polymyalgia rheumatica. The response to be given to the acute phase is similar in both disorders. Scandinavian authors consider polymyalgia rheumatica as the appearance of generalised arthritis. Arthroscopic, nuclear magnetic resonance imaging as well as isotopic studies show unequivocally, that in the background of the osteo-muscular symptoms, complaints, inflammation is to be found partly of the joints but primarily that of the periarticular synovial structures. The above mentioned--dominant--proximal symptoms can often mask the distal locomotor disorders (pitting oedema of the hands and feet, tendonitis, tendosynovitis, carpal tunnel syndrome). The disorder may be accompanied by atypical generalised symptoms (loss of appetite, weight loss, fever, fatigue). An excellent indicators of the acute phase reactions are erythrocyte sedimentation rate, C-reactive protein and interleukin-6. These are suitable for monitoring the effectiveness of the therapy, for indicating a relapse/recurrence. It should be noted, that polymyalgia rheumatica may also be present if the erythrocyte sedimentation rate and C-reactive protein values are low. This disorder is also characterised by fast and effective response to corticosteroid, which should be administered for 1-2 years. In some individual cases a different dosage regime may be necessary: steroid administered in low dosage over a longer period of time. Administration of methotrexate and anti-tumor necrotic factor-alpha may also be considered as alternative or adjuvant therapy for lowering the quantity of corticosteroid. Further multicenter, double blind studies should, however, be performed on large number of patients in this regard.

Adrenal Cortex Hormones↗

PubMed1995

Triplet repeats in neuromuscular disorders.

SBMA, SCA1 and DM are all neuromuscular disorders which have very different presentation with varying degrees of severity but with a common feature of muscular weakness. In addition they all show anticipation correlating with the length of an unstable trinucleotide repeat. It is possible that trinucleotide repeat expansions will underlie other hereditary neuromuscular disorders, for example spinocerebellar ataxia type 2 (mapped to 12q and with similar symptoms to SCA1 including anticipation) is a prime candidate (30). The biochemical effects of these expansions have not yet been elucidated and therefore effective therapeutic interventions cannot currently be designed for affected individuals. However, the relative ease of diagnosis and the availability of accurate prenatal testing have already had a significant impact on the patient groups.

Female↗

PubMed1992

[A case of autoimmune polyglandular deficiency associated with progressive myopathy].

We reported a 29-year-old woman with autoimmune polyglandular deficiency (APGD) type 1 accompanied by progressive myopathy. She had chronic mucocutaneous candidiasis at the age of 3, primary hypothyroidism at 12, insulin dependent diabetes mellitus at 27, and adrenal insufficiency at 29 years. Laboratory findings indicated an underlying defect in cell mediated immunity. Meanwhile, she had progressive muscular weakness and wasting at the age of 22 years which brought her to our hospital at 29 years. On admission, she could not walk without support and raise her arms up to the level of shoulders. Moderate to severe muscle wasting as well as weakness was observed in the limb girdle muscles. Serum CK levels were mildly elevated. A needle EMG examination disclosed short-duration and low-amplitude polyphasic motor units at voluntary contraction with few fibrillations and positive sharp waves at rest. On muscle CT examination, decreased density was detected in the neck extensor, paravertebral, rectus femoris, vastus intermedius, biceps femoris and soleus muscles. Muscle biopsy was performed on the biceps brachii and rectus femoris muscles. The former showed chronic dystrophic changes including marked variation in fiber size with necrotic and degenerating process, interstitial fibrosis, and lobulated and right fibers. In the latter, in addition to variation in fiber size with some necrotic fibers and occasional multi-core structures, nemaline bodies were seen in approximately 30% of muscle fibers. The progressive muscle involvement in our patient might be induced from 1) endocrine abnormality, 2) autoimmune disorder, and/or 3) coincidental complication of nemaline myopathy or limb girdle muscular dystrophy. The clinical and laboratory examinations, however, failed to support any of them.(ABSTRACT TRUNCATED AT 250 WORDS)

Addison Disease↗

PubMed1988

Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.

In addition to the infantile lethal form of glycogen storage disease with cardiomyopathy (GSD Type IIa, Pompe disease) 1,4 glucosidase or acid maltase deficiency has been reported in a few children and adults (GSD Type IIb or IIc) erroneously thought to have muscular dystrophies. The clinical heterogeneity of the muscle involvement in these latter cases is illustrated in a 12-year-old boy presenting with a right lumbar mass, growth retardation, muscular weakness including difficulty in walking, and marked elevations of muscle and liver enzymes. Light- and electron-microscopic examination of specimens from the lumbar mass, apparently normal skeletal muscle and liver, showed typical changes consistent with the biochemical and enzymatic features of acid maltase deficiency. GSD Type IIb and IIc are more frequent than suspected, may present as local pseudohypertrophy and should be considered in patients with progressive muscle disease and abnormal serum enzymes.

Back↗

PubMed1999

Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation.

We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. Creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. Head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.

Adolescent↗

PubMed1995

[Neuromuscular blockade with atracurium in dermatomyositis].

Dermatomyositis (DM) is a rare disease of unknown aetiology involving weakness of proximal muscles, myalgia and impairment of the integument. Due to its low incidence, only few reports exist on the anaesthesiologic management of neuromuscular blockade in patients with DM considered for surgical therapy. In this setting, special attention should be given to the administration of muscle relaxants since an increased sensitivity to these drugs in neuromuscular diseases may be expected. METHODS. This case report describes the neuromuscular monitoring of a female patient aged 53 years with DM undergoing strumectomy and treated with methotrexate and prednylidene. Muscle relaxation was induced with 0.35 mg/kg atracurium (1.5 x ED95). An additional bolus of 0.07 mg/kg was administered 50 min later. Control of sufficient relaxation was performed by tactile methods, and time of onset (TO), duration of action (DA) and recovery index (RI) were measured. RESULTS. Relaxation was obtained within TO of 3 min, DA of 50 min and RI of 11 min. These timer indicate slightly increased sensitivity to atracurium. The postoperative outcome demonstrated no muscular weakness and sufficient spontaneous ventilation. DISCUSSION. To date, few experiences of neuromuscular blockade with atracurium in DM have been presented, hence this report. In addition, no standard recommendations are given regarding the application of nondepolarizing muscle relaxants in this context. In our case, atracurium could be implemented as a safe drug under neuromuscular monitoring.

Atracurium↗

PubMed1991

[A two-year-old clinically manifesting carrier of Duchenne muscular dystrophy].

A two-year-old symptomatic carrier of Duchenne muscular dystrophy (DMD) confirmed by dystrophin immunohistochemical study was reported. She had mild proximal muscular weakness and elevated serum creatine kinase (CK) level. There were no family members of DMD. CT examination revealed low density areas in the muscles similar to that seen in the early stage of DMD. Biopsied specimen of muscle showed myopathic changes with necrotic and regenerating fibers. The immunohistochemical study using an antiserum against dystrophin showed the mosaic expression of the surface membrane, with positive and negative patches. Accordingly, she was strongly suggested to be a DMD carrier. This case shows that dystrophin immunohistochemistry is useful for diagnosis of a DMD carrier without affected family members.

Child, Preschool↗

PubMed1998

[X-linked recessive bulbospinal muscular atrophy (Kennedy's disease). A family study].

Kennedy's disease is a rare type of motor neuron disease with a sex-linked recessive trait. DNA studies show a mutation at the androgen receptor gene on the long arm of X chromosome (Xq 11-12) with expanded CAG triplets (more than 347 repeats). We present three patients and one carrier among ten patients of a four generation family with clinical phenotype of the disease. The patients' ages ranged from 50 to 60 years with symptomatology usually beginning around 30 years of age. Patients had gynecomastia, testicular atrophy, muscular weakness, fasciculation, amyotrophy, absent deep tendon reflexes and postural tremor. PCR techniques of DNA analysis showed expanded size of CAG repeats on Xq 11-12 in all the three patients and in the carrier asymptomatic woman. This is the first Brazilian family with genetic molecular diagnosis of Kennedy's disease. This disease must be included in the differential diagnosis of motor neuron disease since it has a distinct prognosis and genetic counseling is mandatory to the carriers.

Diagnosis, Differential↗