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PubMed1978

Dystrophia myotonica and hypothyroidism.

Two cases of dystrophia myotonia associated with hypothyroidism are reported. This association is not frequent. In both cases the hypothyroidism precipitated an otherwise mild muscular weakness due to dystrophia myotonia. Treatment with dried thyroid improved the muscular power, while the myotonia remained unchanged. Since dystrophia myotonica and hypothyroidism have many presenting symptoms in common, a complete assessment of the thyroid function in every case of dystrophia myotonica seems worthwhile.

Electromyography↗
PubMed1993

Prophylaxis of falls and treatment of fractures.

This review has highlighted important preventive measures for falls and fractures in elderly osteopenic patients, and has discussed the therapeutic possibilities after an osteoporotic fracture has occurred. Assuming that a large proportion of osteoporotic fractures are a consequence of traumatic falls, and are not spontaneous, due to osseous weakness, preventive measures in elderly people are best directed to counteract muscular weakness, improve agility and correct visual impairment. It is also important to guard against unnecessary obstacles in the home and the reflex habits of doctors to prescribe hypnotics and tranquillizers, as well as their occasional tendency to overtreat hypertension. Practical examples of rational measures to protect against these causes of fractures have been given. In the second part of the review, the treatment of fractures has been delineated. The goals are adequate pain relief, early immobilization of the patient, avoidance of overtreatment and fast restoration of the quality of life. Three stages of pain relief by drugs are outlined. The first consists of a simple non-narcotic analgesic, such as paracetamol. In a second stage, either the combination of paracetamol with a muscle relaxant or the administration of a narcotic analgesic of medium potency is proposed. As a third stage, several therapeutic approaches to the administration of potent narcotic analgesics have been discussed. Non-drug measures, such as the use of heat, ultra-soft mattresses, walking frames, crutches and sticks, as well as active forms of physiotherapy, have been discussed both in terms of pain relief and early mobilization.

Accidental Falls↗
PubMed2004

Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.

Diseases due to mutations in the lamin A/C gene (LMNA) are highly heterogeneous, including neuromuscular and cardiac dystrophies, lipodystrophies, and premature ageing syndromes. In this study we characterized the neuromuscular and cardiac phenotypes of patients bearing the heterozygous LMNA R482W mutation, which is the most frequent genotype associated with the familial partial lipodystrophy of the Dunnigan type (FPLD). Fourteen patients from two unrelated families, including 10 affected subjects, were studied. The two probands had been referred for lipoatrophy and/or diabetes. Lipodystrophy, exclusively observed in LMNA-mutated patients, was of variable severity and limited to postpubertal subjects. Lipodystrophy and metabolic disturbances were more severe in women, even if an enlarged neck was a constant finding. The severity of hypertriglyceridemia and hirsutism in females was related to that of insulin resistance. Clinical muscular alterations were only present in LMNA-mutated patients. Clinical and histological examination showed an invalidating, progressive limb-girdle muscular dystrophy in a 42-yr-old woman that had been present since childhood, associated with a typical postpubertal FPLD phenotype. Six of eight adults presented the association of calf hypertrophy, perihumeral muscular atrophy, and a rolling gait due to proximal lower limb weakness. Muscular histology was compatible with muscular dystrophy in one of them and/or showed a nonspecific excess of lipid droplets (in three cases). Immunostaining of lamin A/C was normal in the six muscular biopsies. Surprisingly, calpain 3 expression was undetectable in the patient with the severe limb-girdle muscular dystrophy, although the gene did not reveal any molecular alterations. At the cardiac level, cardiac septal hypertrophy and atherosclerosis were frequent in FPLD patients. In addition, a 24-yr-old FPLD patient had a symptomatic second degree atrioventricular block. In conclusion, we showed that most lipodystrophic patients affected by the FPLD-linked LMNA R482W mutation show muscular and cardiac abnormalities. The occurrence and severity of the myopathic and lipoatrophic phenotypes varied and were not related. The muscular phenotype was evocative of limb girdle muscular dystrophy. Cardiac hypertrophy and advanced atherosclerosis were frequent. FPLD patients should receive careful neuromuscular and cardiac examination whatever the underlying LMNA mutation.

Adolescent↗
PubMed2003

[Cheiromegaly and podomegaly associated with primary progressive multiple sclerosis: a case report].

Cheiromegaly is an extremely rare syndrome characterized by unilateral hand hypertrophy with hyperhydrosis. Unilateral foot hypertrophy has been described as podomegaly. Cheiromegaly/podomegaly is usually seen in patients with syringomyelia. Although the underlying pathophysiology remains unknown, it is speculated that chronic cervical cord injury including central descending sympathetic tract is essential for development of this syndrome. We report a cheiromegaly/podomegaly in a case with primary progressive multiple sclerosis. This 29-year-old woman developed cheiromegaly and podomegaly in her right hand and foot associated with chronic progressive cervical myelopathy. At age two, she developed transient paraparesis with full recovery, suggesting her symptomatic onset of her longstanding illness. At age 10, she had left leg weakness, and gradually worsened. On admission at age 29, she had muscular weakness in her left upper and both lower extremities. Sensory impairment was seen below her 5th cervical and 6th thoracic dermatome level. Her deep tendon reflexes were exaggerated in all extremities with bilateral Babinski's signs. MR imaging showed multiple plaques in the white matter of the brain associated with cervical spinal cord lesions. Taken together with the presence of oligoclonal band IgG in the cerebrospinal fluid, this patient met the criteria of multiple sclerosis. This is the first report presenting cheiromegaly/podomegaly not associated with syringomyelia, but with multiple sclerosis. It is suggested that cheiromegaly/podomegaly in present case may be caused by chronic cervical cord injury affecting descending central sympathetic tract associated with primary progressive multiple sclerosis.

Acromegaly↗
PubMed2005

[An autopsy case of origin-unidentified meningeal carcinomatosis presenting with monoradiculopathy multiplex in the lower extremities].

A 54-year-old man with a history of partially dissected epidermoid cyst in the left cerebellopontine angle suffered from a slowly progressive dysesthesia and weakness in the lower extremities and trunk. Neurological examination revealed segmental muscular weakness and sensory disturbance in those regions, giving rise to the possibility of monoradiculopathy multiplex, as well as loss of tendon reflexes, dysuria and right facial nerve palsy. Electrophysiological studies indicated irregular motor axonopathy or neuronopathy and interruption of more central sensory pathways than the lumbosacral spinal nerve roots with spared peripheral sensory nerves. Although MRI demonstrated enhanced lesions in the cauda equina and lumbosacral leptomeninges, CSF cytology or a cauda equina biopsy showed no malignancy. His symptoms gradually progressed and he died 15 months after the onset. The autopsy failed to reveal any tumors in the general systemic internal organs. Histopathology demonstrated meningeal carcinomatosis with squamous-type carcinoma cells scattered in the cerebrospinal leptomeninges, and perineurium in almost all the spinal and cranial nerve roots, causing severe axonal degeneration. The dorsal root ganglions escaped tumor cell invasion. Absence of the malignant tumors in the systemic organs and the history of the operated epidermoid cyst indicate that the tumor may be the cause of the meningeal carcinomatosis in this case. Meningeal carcinomatosis almost always shows rapid progression and extremely poor prognosis with several month survival in general, and little attention has been paid that it can exhibit symptoms and signs of segmental involvement in the lumbosacral regions. Our present case prompts us to bear in mind that patients with this condition can survive fairly long, and raises the possibility that a careful neurological examination with segmental involvement will reveal such a feature more frequently than considered so far in this condition.

Carcinoma, Squamous Cell↗
PubMed1981

[Myoglobinuria in malabsorption after small bowel resection].

A patient with subtotal small bowel resection after mesenterial vein thrombosis presented with muscular weakness and pain. An increase in the activities of enzymes of muscular origin and of myoglobin in serum was found and myoglobinuria was detected. Muscle damage in this patient is attributed to electrolyte disturbances following extensive small bowel resection.

Aged↗
PubMedDate not supplied

Weakness from magnesium-containing cathartics: electrophysiologic studies.

The case history of a patient with severe muscular weakness resulting from magnesium intoxication following oral and rectal administration of magnesium citrate cathartics is reported. The findings of the electrophysiologic studies were characteristic of the neuromuscular blockade seen in this disorder, including marked reduction in evoked muscle action potential amplitude which progressively decline on nerve stimulation at low rates, and a striking degree of facilitation of evoked muscle action potential after exercise or on high-frequency stimulation. When the hypermagnesemia was corrected, strength returned to normal.

Action Potentials↗
PubMed1991

[Mitochondrial myopathy: report of 12 cases with histochemical study of the skeletal muscle].

Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture was that of ophthalmoplegia, ptosis and muscle weakness found in 10 patients. One presented with exercise intolerance due to muscular aches and pains, and the other besides his muscular weakness had mental retardation and an aggressive behavior. The clinical presentation and differential diagnosis of these patients are discussed.

Adolescent↗
PubMed1992

Muscle strength is improved after parathyroidectomy in patients with primary hyperparathyroidism.

Fatigue and muscular weakness are prevalent symptoms in patients with primary hyperparathyroidism. This study examined muscular strength before and after operation in a group of eight patients with hyperparathyroidism and in a control group of seven patients with benign thyroid lesions. The maximum power grip, pronation and supination, and endurance for the same muscular movements, were studied by means of a computer program. Patients with hyperparathyroidism had impaired muscular strength compared with the controls but 12 months after operation a significant improvement of all muscular performance was observed. No such improvement was detectable among the controls. There was no correlation between the levels of serum calcium and parathyroid hormone and the measurements recorded before and after operation. Muscular impairment in hyperparathyroidism is measurable by an objective technique. Improvement occurs after surgery.

Adult↗
PubMed1992

Peripheral neuropathy in German shepherd dogs.

Three aged (10-year-old) German Shepherd Dog litter mates, separately reared, were affected with familial and adult onset peripheral neuropathy. They developed clinical signs, unsteady gait of their hind legs with progressive muscular weakness at almost the same time. The main lesions were systemic neurogenic muscular atrophy, segmental demyelination and Wallerian degeneration of the peripheral nerve fibres. Histochemically, collateral ramification and multiple terminal arborization were observed in terminal axons of motor neurones in the muscles. These changes were attributed to a dying-back process.

Animals↗
PubMed2004

[Thiamine deficiency polyneuropathy after gastrectomy associated with high level of serum vascular endothelial growth factor (VEGF). A case report].

We report a 66-year-old man who developed vitamin B1 deficiency polyneuropathy long after a gastrectomy. After a preceding bronchial infection, the patient noticed numbness and weakness in his extremities, followed by generalized edema and exertional dyspnea. He had undergone subtotal gastrectomy due to duodenal ulcer at age 19. His daily oral intake of food was normal without any alcoholic abuse. He was admitted to our hospital with rapidly progressive gait disturbance due to muscle weakness, and sensory disturbance. Neurological examination showed peripheral polyneuropathy with distal dominant muscular weakness and sensory disturbance. Chest X-ray film showed marked cardiomegaly and pleural effusion. Nerve conduction studies showed decreases in the action potentials of both the motor and sensory nerves, with the sensory nerves being more severely affected than the motor nerves. Sural nerve biopsy demonstrated severe axonal degeneration without any inflammatory change. The blood concentration of thiamine (vitamin B1) was slightly decreased below the normal range (19 ng/ml; normal, 20-50), and the serum vascular endothelial growth factor (VEGF) was high (890 pg/ml; normal < 200 pg/ml). Intravenous administration of vitamin B1 (50 mg per day) dramatically improved his symptoms in a few days and the level of VEGF returned to nearly normal. In this gastrectomized patient many years ago, vitamin B1 deficiency neuropathy is warranted in view of a prompt response to thiamine administration. This case suggests that VEGF is involved in the pathogenesis of vitamin B1 deficiency polyneuropathy.

Aged↗
PubMedDate not supplied

[Arthroscopic joint debridement for gonarthrosis: influence of degree of chondral damage and muscle weakness on results].

AIM: Purpose of this study was to investigate the correlation between subjective patient discomfort, chondral damage and muscular weakness in cases of gonarthrosis (OA). METHODS: In 22 patients suffering from OA who underwent arthroscopy, the complaints were scored by the Lysholm score. Chondral damage was determined by a special "chondral score". The maximum peak torque was measured pre- and postoperatively (isokinetic test, Cybex 6000 dynamometer). RESULTS: Joint debridement and subsequent postoperative aggressive rehabilitation produced a significant increase in the Lysholm score (from 45.7 to 77.5 points). Subjective complaints correlated significantly with the degree of chondral damage. After treatment, the strength of the extensor muscles increased significantly. The strength of the flexor muscles strength also increased tendentially. However, there was a deficit in muscular strength in comparison to the contralateral leg in all cases. The subjective complaints correlated with the loss of muscle strength at slow angular velocities. CONCLUSIONS: The patients" evaluation with the Lysholm score in combination with an arthroscopic chondral score and the measurement of the isokinetic muscle strength is a suitable method to obtain information about the chances of success for arthroscopic joint debridement in patients suffering from OA. Arthroscopic treatment is an appropriate measure for a short-term reduction of subjective complaints in OA. But it is also useful to reduce muscular deficits.

Adult↗
PubMed1975

Degeneration of muscle in association with carcinoma of the bronchus.

The clinical features and necropsy findings are described in three cases in which severe and rapidly progressive muscle weakness developed in association with carcinoma of the bronchus. In all three cases, muscular weakness was directly responsible for death. Histological and ultramicroscopical examination in all cases showed an unusual type of degeneration of muscle fibres accompanied by degeneration of intramuscular nerve fibres, but without involvement of the central nervous system, or of the peripheral nerve trunks. The findings are compared with those of previously reported cases, and possible mechanisms for the muscle degeneration are discussed.

Aged↗
PubMed1996

[Oculopharyngeal myopathies: value of myotomy of the superior sphincter of the esophagus. Apropos of a case].

Since 3 years, a 74 year-old man suffered of swallowing impairment, weight loss, bilateral ptosis and proximal muscular weakness. Electron microscopy disclosed intranuclear tubular filaments and confirmed the diagnosis of oculopharyngeal muscular dystrophy. Upper oesophageal sphincter myotomy was performed with complete improvement. Four months after surgery, swallowing disorders were not recurrent and weight gain was substantial.

Aged↗
PubMed2001

[Muscle weakness or rigidity due to hereditary ion channel diseases].

Three men, aged 36, 16 and 66 years, had suffered for several years from muscular weakness; after a low serum potassium level had been established, supplementary examination revealed hypokalaemic periodic paralysis. A woman aged 25 had suffered since youth from muscular stiffness on sudden movements; she suffered from hereditary myotonia of the recessive type (Becker's disease). Both rare skeletal muscle ion channel diseases are characterized by the fact that the variable clinical expression complicates making the diagnosis. Since the causal mutations are known, genetic analysis is an essential step in confirming the diagnosis. Additional EMG procedures may be of diagnostic value, even in cases that cannot be clarified genetically.

Adolescent↗
PubMed1994

Suramin-induced weakness from hypophosphatemia and mitochondrial myopathy. Association of suramin with mitochondrial toxicity in humans.

BACKGROUND: Suramin is an antiparasitic drug being evaluated as an antitumor compound. Suramin therapy commonly causes weakness and is known to cause neuropathy. Two potential causes of suramin-induced muscular weakness are described. METHODS: Suramin was administered to 15 patients with advanced cancer as part of a Phase I study. Weekly dosing was adjusted to achieve mean plasma concentrations of 210 micrograms/ml. RESULTS: Serum phosphate levels fell significantly (P < 0.0001) in all 15 patients on the 42nd day of treatment from a pretreatment average of 4.0 mg/dl (standard deviation [SD] +/- 0.37) to 3.0 mg/dl (SD +/- 0.20). Absolute hypophosphatemia developed in two patients with more prolonged suramin treatment due to Fanconi's syndrome. The patient who received the largest amount of suramin (19.2 g over 14 weeks) had severe proximal muscle weakness despite 6 weeks of effective phosphate repletion. A muscle biopsy was performed, which demonstrated markedly decreased cytochrome c oxidase activity by muscle histochemistry and biochemistry. Electron microscopy revealed subsarcolemmal collections of abnormal mitochondria. This mitochondrial myopathy resolved clinically 7 weeks after discontinuing suramin. CONCLUSIONS: This report indicates that suramin is associated with hypophosphatemia of Fanconi's syndrome and a mitochondrial myopathy. The clinical combination of mitochondrial myopathy and Fanconi's syndrome is similar to descriptions of congenital mitochondrial cytochrome c oxidase deficiency of de Toni-Fanconi-Debré syndrome. These findings in humans correlate with the authors' in vitro observations that suramin causes toxic mitochondrial changes, indicating a mechanism of suramin's toxicity and possibly its antitumor effect.

Electron Transport Complex IV↗
PubMed1990

An isolated case of Duchenne muscular dystrophy (DMD) in a female with a deletion of DMD cDNA.

An isolated case of Duchenne muscular dystrophy (DMD) in a female who has a deletion of the DMD locus is described. This patient was a 26-year-old woman born to unrelated, healthy parents. She was initially examined at age 6 because of a waddling gait. At age 15, pseudohypertrophy of calves and pes equinus were observed along with proximal muscular weakness and wasting. Her serum creatine kinase level was high and histological evidence of muscular dystrophy was apparent on muscle biopsy. The patient was ambulant at age 15 and progression of motor disability has been slow. Chromosomal studies revealed a normal karyotype, and mental retardation is moderate. DNA analysis at age 26 revealed that she has a deletion of DMD cDNA 8 mapped within Xp21 and is heterozygous for the deletion. Since diagnosis of DMD is now dependent on the evidence of mutation or deletion at Xp21, this patient is thought to have a form of DMD. Expression of the DMD gene in the heterozygous state might be due to random but unequal lyonization.

Adult↗
PubMed1999

Problem-focused coping and satisfaction with activities of daily living in individuals with muscular dystrophy and postpolio syndrome.

The problems, problem-focused coping and satisfaction with activities of daily living in a total of 119 persons with muscular weakness are described. The study encompasses three groups: 33 persons with various types of muscular dystrophy, 46 with myotonic dystrophy and 40 with symptoms relating to the post-polio syndrome. A self-report instrument for Assessment of Problem-focused Coping (APC) was used. Most of the problems reported were connected with mobility and transportation and work, but the subjects used problem-focused coping relatively infrequently and few differences were found between the different groups or between the sexes. The most widely used problem-focused coping strategy was 'Devices and tricks'. The highest degree of satisfaction was noted for personal care and the lowest for mobility and transportation. The APC provides information about patients' evaluation of everyday situations, forming a complement to functional measurements in the field of rehabilitation.

Activities of Daily Living↗