Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “PROGRESSIVE MUSCULAR ATROPHY”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,225 records · Page 68Linked to original sources
PubMed1991

[A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality].

We report an 18-year-old female with facioscapulohumeral dystrophy (FSHD), who had sensorineural deafness, retinal vessel abnormality, mental retardation, and epilepsy. She had infantile spasms at 6 months of age. Muscle atrophy and weakness of facial muscles were first noticed at 3 years of age. From 10 years of age, she had rapidly progressive generalized muscle weakness especially of facial, neck and truncal muscles with marked lordosis. Although mental retardation is commonly complicated with FSHD, infantile spasms or epilepsy has never been reported. Not only mental retardation but epilepsy may be one of the central nervous system symptoms in a systemic disorder, FSHD.

Adolescent↗
PubMed2006

Myosin storage (hyaline body) myopathy: a case report.

Myosin storage myopathy/hyaline body myopathy is a rare congenital myopathy, with less than 30 cases reported in the literature. It is characterised by the presence of subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle weakness. Recently, a single mutation (Arg1845Trp) in the slow/beta-cardiac myosin heavy chain gene (MYH7) was identified in four unrelated probands from Sweden and Belgium. The clinical severity and age of onset was variable, despite the same disease-causing mutation and similar histological findings. Here, we report the clinical and morphological findings of two brothers of English/Scottish background with the Arg1845Trp mutation in MYH7. This case report adds to the clinical description of this rare disorder and confirms that Arg1845Trp is a common mutation associated with this phenotype, at least in the White European population.

Amino Acid Substitution↗
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↗
PubMed2000

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases). Twelve of the 53 patients showed cardiac involvement exclusively, although the remaining 41 all showed muscle weakness and contractures. We were able to identify a common phenotype among the patients with skeletal muscle involvement, consisting of humeroperoneal wasting and weakness, scapular winging, rigidity of the spine, and elbow and Achilles tendon contractures. The disease course was generally slow, but we observed either a milder phenotype characterized by late onset and a mild degree of weakness and contractures or a more severe phenotype with early presentation and a rapidly progressive course in a few cases. Mutation analysis identified 18 mutations in LMNA (i.e., 1 nonsense mutation, 2 deletions of a codon, and 15 missense mutations). All the mutations were distributed between exons 1 and 9 in the region of LMNA that is common to lamins A and C. LMNA mutations arose de novo in 76% of the cases; 2 of these de novo mutations were typical hot spots, and 2 others were identified in 2 unrelated cases. There was no clear correlation between the phenotype and type or localization of the mutations within the gene. Moreover, a marked inter- and intra-familial variability in the clinical expression of LMNA mutations exists, ranging from patients expressing the full clinical picture of EDMD to those characterized only by cardiac involvement, which points toward a significant role of possible modifier genes in the course of this disease. In conclusion, the high proportion of de novo mutations together with the large spectrum of both LMNA mutations and the expression of the disease should now prompt screening for LMNA in familial and sporadic cases of both EDMD and dilated cardiomyopathy associated with conduction system disease.

Adolescent↗
PubMed1989

Unit rod segmental spinal instrumentation in the management of patients with progressive neuromuscular spinal deformity.

Thirty-four nonambulatory patients with progressive neuromuscular spinal deformity were surgically managed using a 1/4" U-shaped double rod construct with segmental instrumentation from T2 to the pelvis accompanied by posterior spinal fusion. Diagnoses included 17 patients with cerebral palsy, six with spinal bifida, and 11 with other diseases (spinal muscular atrophy, Friedreich's ataxia, polyneuropathy, nemaline myopathy, and polio). Twenty-three patients had single uncompensated thoracolumbar curves, and 11 had a double curve pattern. The mean preoperative major curve was 66 degrees (range, 22-132 degrees), the secondary curve 58 degrees (range, 23-84 degrees). No postoperative spinal support was used. Mean curve correction was 36 degrees or 54.6%. There were four major complications, including two implant failures requiring revision and two patients sustaining excessive intraoperative blood loss necessitating completion of the procedure in a second stage. There were two neurologic complications including one case of postoperative seizures and an L4 monoradicular neuropathy in a spina bifida patient. Four patients had temporary postoperative ileus, one gastroesophageal reflex, and four had urinary tract infections. There were no significant postoperative pulmonary complications. Excluding the patients with rod failure, mean loss of correction at mean follow-up of 21.3 months was 6.5%. The stability and curve correction obtained using this system supports its continued use in patients with progressive neuromuscular scoliosis.

Adolescent↗
PubMed1997

[Clinical, humoral and scintigraphic assessment of a bisphosphonate as potential treatment of diaphyseal dysplasia: Ribbing and Cammurati-Engelmann diseases].

Cammurati-Engelmann's Disease or Progressive Diaphyseal Dysplasia (PDD), is a rare autosomal dominant disorder, sometimes non hereditable, which begins in childhood, and is characterized by symmetrical excess of osseous apposition in diaphysis and metaphysis of long bones. In severe cases skull and vertebrae could be involved. Clinically, patients refer limb pain, muscular weakness and atrophy, easy fatigability and waddling gait. Later on S. Ribbing described an illness that he thought was a separate entity with sclerosis and enlargement of diaphysis of femora and tibiae, which begins after puberty, is less extensive, not always symmetric and without gait or neurological involvement. Some authors think it may be an adult form of the PDD. As no specific treatments are available we report one case of each entity, treated with the bisphosphonate pamidronate, by the oral route. A white female, 69 years old, with clinic and radiology of Ribbing's Disease, had positive scintigraphy in the affected areas and elevated bone biochemical markers: Serum alkaline phosphatase (SAP): 57 UKA. Total urinary hydroxyproline (THP): 60 mg/24 h. Bone Gla protein (BGP): 40 ng/ml. Considering the high bone turnover treatment with oral pamidronate, 400 mg/day plus Calcium 1g/day was started, dose was then progressively reduced. After two months pain almost disappeared, and THP became normal: 14 mg/24 h; with normalization of BGP values: 8 ng/ml, and a decrease of SAP: 21 UKA, 99mTc MDP uptake by affected bones decreased after 1 year of treatment. Because of these results we decided to begin treatment in a white female 17 years old, 32 kg weight, 1.47 m height with PDD characteristics and also a high bone turnover (THP: 95 mg/24 h. SAP: 32 UKA). After six months of Calcium 1 g/day, given with meals, and oral pamidronate 100 mg/day, she became painless with normal strength and gait, almost normalization of THP (48 mg/24 h). Although a small decrease of SAP, and no charges in scintigraphy. These results obtained with pamidronate suggest that it may be useful to treat dysplasias with high bone turnover.

Adolescent↗
PubMed2001

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.

The autosomal dominant mutation causing myotonic dystrophy (DM1) is a CTG repeat expansion in the 3'-UTR of the DM protein kinase (DMPK) gene. This multisystemic disorder includes myotonia, progressive weakness and wasting of skeletal muscle and extramuscular symptoms such as cataracts, testicular atrophy, endocrine and cognitive dysfunction. The mechanisms underlying its pathogenesis are complex. Recent reports have revealed that DMPK gene haploinsufficiency may account for cardiac conduction defects whereas cataracts may be due to haploinsufficiency of the neighboring gene, the DM-associated homeobox protein (DMAHP or SIX5) gene. Furthermore, mice expressing the CUG expansion in an unrelated mRNA develop myotonia and myopathy, consistent with an RNA gain of function. We demonstrated that transgenic mice carrying the CTG expansion in its human DM1 context (>45 kb) and producing abnormal DMPK mRNA with at least 300 CUG repeats, displayed clinical, histological, molecular and electrophysiological abnormalities in skeletal muscle consistent with those observed in DM1 patients. Like DM1 patients, these transgenic mice show abnormal tau expression in the brain. These results provide further evidence for the RNA trans-dominant effect of the CUG expansion, not only in muscle, but also in brain.

Animals↗
PubMed1995

Human aging, muscle mass, and fiber type composition.

To assess the age-related loss of muscle mass and to determine the mechanisms behind this aging atrophy, the muscle structure and fiber type composition have been estimated, using invasive and noninvasive techniques. Limb muscles from older men and women are 25-35% smaller and have significantly more fat and connective tissue than limb muscles from younger individuals. Comparisons of muscle biopsies from younger and older individuals reveal that type 2 (fast-twitch) fibers are smaller in the old, while the size of type 1 (slow-twitch) fibers is much less affected. Studies of whole muscle cross sections also show a significantly smaller number of muscle fibers, a significantly lower relative type 2 fiber area, and a significant increase in fiber type grouping with increasing age. These results indicate a gradual decrease in size/volume with advancing age, accompanied by a replacement by fat and connective tissue. This aging atrophy seems to be due to a reduction in both number and size of muscle fibers, mainly of type 2, and is to some extent caused by a slowly progressive neurogenic process.

Adipose Tissue↗
PubMed1982

Pathology of a new toxic syndrome caused by ingestion of adulterated oil in Spain.

The Toxic Syndrome (TS) caused by ingestion of adulterated rapeseed oil in Spain is a new disease of multisystemic character whose aetiology and pathogenesis remains unknown. The most prominent pathological feature is a peculiar non-necrotizing vasculitis, that affects mainly the intima and involves vessels of every type and size in practically every organ. The TS begins with an acute clinical picture with pleuropneumopathy, fever, headaches, exanthems and eosinophilia. In these early clinical phases the main pathological findings were observed in the lungs and consisted of intense pulmonary interstitial oedema with scanty inflammatory mononuclear infiltrates. Ultrastructural study revealed hydropic degeneration of pneumocytes types I and II with desquamation of type I. The patients in this phase died of respiratory failure, later deaths were due to thromboembolic complications. Later still the patients developed a neuromuscular syndrome, sclerodermiform skin lesions and severe weight loss and died predominantly of infectious complications and respiratory failure. The anatomopathological picture in the peripheral nerves was that of inflammatory neuropathy with a lymphocytic perineuritis that led to perineural fibrosis with secondary axonal degeneration. The muscle presented an interstitial inflammatory myopathy at first followed by a neurogenic muscular atrophy. The skin lesions in the late phases consisted in dermal or dermal and subdermal fibrosclerosis, with vasculitis of the small arteries in the lower dermis. The salivary glands and pancreas showed vasculitis and interstitial inflammation which progressed to interstitial fibrosis and parenchymal atrophy.

Adolescent↗
PubMed1987

Response to immunosuppressive therapy in patients with hereditary motor and sensory neuropathy and associated dysimmune neuromuscular disorders.

We encountered 2 patients with hereditary motor and sensory neuropathy (HMSN) type I who had marked weakness developing during several months superimposed on chronic peroneal muscular atrophy. Further studies disclosed a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in one patient and CIDP associated with polymyositis in the other. Both patients responded to prednisone and azathioprine with substantial improvement. Patients with HMSN who develop rapid progression of weakness should be evaluated for superimposed, potentially treatable dysimmune neuromuscular disorders.

Adult↗
PubMed1993

[Syringomyelic syndrome secondary to cervical canal stenosis and cervical spondylosis].

A 59-year-old man suffered from progressive muscular weakness and sensory loss of both upper limbs for seven years. Neurological examination revealed vest-form sensory loss of all modalities from the level of C3 to Th2 on both sides together with muscular weakness and atrophy of the upper limbs in predominantly proximal distribution. Deep tendon reflexes were generally hyperactive except for the left biceps brachii. Based on these neurological manifestations, a clinical diagnosis of syringomyelic syndrome was made. The plain X-ray showed anomalies of the craniovertebral junction; occipitalization of the atlas, separate odontoid and fusion of C2 and C3 vertebrae, as well as cervical canal stenosis with cervical spondylosis. On sagittal T2-weighted MRI, the spinal cord was compressed at multiple levels from C3/4 to C6/7, and an intramedullary high signal intensity area was demonstrated from the level of C1 to C3/4. T1-weighted axial image showed a cavity formation at the center of the cord from the level of C1 to C2. No chiari malformation was found. Normal pulsatile CSF movement was diminished below the level of compression on cine MRI. On delayed CT examination 6 hr after myelography, the contrast medium was collected inside the spinal cord and showed "snake-eyes" appearance at and near the level of spondylosis. Above this level extending to C1, there was a longitudinally oriented "pencil-shape" zone of intramedullary contrast collection. These neuroimaging findings well corresponded with the patient's neurological signs and symptoms. The muscular weakness of both upper limbs improved after conservative therapy including immobilization of the neck position.(ABSTRACT TRUNCATED AT 250 WORDS)

Cervical Vertebrae↗
PubMed1993

[A case of hereditary motor and sensory neuropathy (HMSN type 2) with bilateral recurrent nerve palsy].

An atypical case of hereditary motor and sensory neuropathy (HMSN) type 2 with cerebellar ataxia, hand tremor and bilateral recurrent nerve palsy was described. The patient was a 57-year-old man who complained of dyspnea, stridor , hoarseness during exercise and snored heavily during sleep since he was 20 years old. These symptoms and signs were slowly progressive. He had difficulty in breathing even at resting state when he was 54 years old and since then, he noticed muscle wasting of his hands and feet. Neurological examinations on admission revealed pes cavus, scoliosis, distal muscular atrophy in his four extremities, especially severe in bilateral lower limbs. Deep tendon reflexes were diffusely depressed. The fiberscopic examination demonstrated the limitation of bilateral vocal cord abduction and his tongue was slightly atrophic. Fine postural tremor was found in bilateral hands. Mild limb and truncal ataxias were also noted. Blood pCO2 level was elevated to 66% although FEV1.0% and vital capacity were within normal limits. Peripheral nerve conduction velocities were almost normal, though distal terminal latencies were slightly prolonged and amplitudes of evoked potentials were markedly decreased. The sural nerve biopsy studies revealed the chronic axonal or neuronal degeneration of both large and small myelinated fibers. From the clinical, electrophysiologic and histopathologic findings, the diagnosis of HMSN type 2 with bilateral recurrent nerve palsy and other atypical neurological findings was made. It is practically important to evaluate the presence or absence of vocal cord paralysis in the patients with HMSN from clinical viewpoints.

Biopsy↗