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 1,045 records · Page 58Linked to original sources
PubMed1990

[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy].

Sibling cases of familial vitamin E deficiency accompanied by ataxia, polyneuropathy and mental retardation were reported. Case 1 was a 37-year-old male who developed progressive gait disturbance, deformity of the feet and head tremor from childhood, after normal delivery and development of early childhood. On physical examination, he had cataract, high arched palate and pes cavus. Neurological examination revealed mental retardation (WAIS 68), scanning speech, muscular atrophy of the face and extremities with predominance in the lower limbs, absent Achilles tendon reflex, disturbance of superficial and deep sensation predominant in distal limbs, and marked gait ataxia. Ataxia was both cerebellar and sensory in nature. Laboratory data of the blood showed no significant abnormalities including blood glucose and vitamin B12 except a markedly low level of serum vitamin E. The brain CT scan revealed severe cerebellar atrophy and marked dilatation of the cisterna magna and the subarachnoid space around the cerebellum. Motor nerve conduction velocity in the leg was decreased. Biopsy specimen from the quadriceps muscle showed neurogenic atrophy. Sural nerve biopsy revealed decrease in large myelinated fibers with axonal degeneration and regeneration. Oral administration of alpha-tocopherol acetate, 600 mg per day, diminished ataxia significantly. Based on lysosomal enzyme activity in leukocytes, clinical and laboratory examination, lipidosis or spinocerebellar degeneration was excluded. Chronic lipid malabsorption or beta lipoprotein deficiency which can cause decrease in vitamin E absorption, was not recognized. On oral loading with 2 g of alpha-tocopherol acetate, the decrease rate of serum vitamin E was normal. Consequently the low vitamin E was considered to have resulted from selective impairment of vitamin E absorption.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

Profiles of neuromuscular diseases. Spinal muscular atrophy.

Forty-five individuals with spinal muscular atrophy (SMA) types II and III were evaluated prospectively over a 10-yr period to develop an impairment and disability profile. SMA II subjects showed marked weakness and progressive decline of strength. Mean manual muscle test (MMT) score for all muscles combined was 2.3 +/- 0.6, with a decline in strength of -0.24 MMT units per decade. SMA III individuals had a relatively static or very slowly progressive course and were far stronger. Mean MMT score for all muscles combined was 3.8 +/- 0.7, and the decline in strength per decade was not significant. In both types proximal weakness was greater than distal, but there was greater involvement of the lower extremities and the extensor muscle groups only in SMA II. Contractures, progressive scoliosis, and restrictive lung disease (RLD) were present in most of the SMA II individuals, but these complications were rare in SMA III. Maximal expiratory pressures were affected earlier and to a greater degree than vital capacity. Seventy-eight percent of those with SMA II had scoliosis with a mean Cobb angle of the primary curve of 62 +/- 37 degrees. Forty-one percent had severe RLD, and 17% had moderate RLD. In both types, 63% had abnormal electrocardiograms although most had minor findings. Timed motor performance and functional evaluations indicated that muscle weakness translated to substantial disability in both SMA II and III, with more severe impairment noted in SMA II. Neither type was associated with abnormal means scores on intellectual and neuropsychologic test batteries.

Adolescent↗
PubMed1992

Medical therapy in spinal muscular atrophy: a realistic expectation?

The hereditary spinal muscular atrophies (SMA) type I-III belong to those diseases for which even the thought of medical therapy seems forbidden. Two neurotrophic factors are, however, now known to exert a markedly stimulating effect on survival of motor neurons in vivo! In principle such factors may become available by recombinant DNA techniques for experiments in animal models of SMA and if these experiments are successful for clinical trials in man. Medical therapy in SMA should aim primarily at patients early in the rapidly progressive phase of their disease, before massive loss of motoneuron has taken place.

Adrenocorticotropic Hormone↗
PubMed1995

The mouse mutation progressive motor neuronopathy (pmn) maps to chromosome 13.

Analysis of polymorphic markers segregating in both intra- and interspecific crosses has allowed us to map the autosomal recessive mutation progressive motor neuronopathy (pmn) to mouse Chr 13. Although this mutation, based on its histological description, was reported as a model for infantile spinal muscular atrophy of the Werdnig-Hoffmann type, its localization to a region that is not homologous with human 5q makes it unlikely to be a homologue to SMA. The presence of the Extra-toe (Xt) locus in proximity to pmn will help in the detection of affected progenies before the onset of the degenerative process.

Animals↗
PubMed2002

[Multifocal motor neuropathy: diagnosis and differential diagnosis].

Multifocal motor neuropathy (MMN) is an acquired immune mediated motor neuropathy with characteristic clinical and neurographic features.Clinically, MMN is characterized by progressive, predominantly distal and asymmetrical limb weakness. Neurographic recordings demonstrate features of multifocal demyelination with or without conduction block. Sensory nerves are not affected. Due to strict diagnostic criteria,MMN may be underdiagnosed in patients with motor neuropathies. Since intravenous immunglobulins are an efficient therapy for MMN,clinical and electrophysiological differentiation from other neuromuscular disorders is mandatory to prevent progressive impairment of motor function. We present a patient with MMN and review the clinical, electrophysiological, and histological features. In addition,pathogenesis, differential diagnosis and treatment of MMN are discussed.

Adult↗
PubMed1995

A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy.

Type IV glycogenosis (polyglucosan body disease) is a rare congenital autosomal recessive inherited disorder, caused by lack of the branching enzyme (amylo-1,4-1,6 transglucosidase). This deficiency leads to storage of abnormal glycogen (polyglucosan bodies) in the liver and other tissues. The clinical onset of the disease is insidious with non-specific gastrointestinal symptoms followed by progressive hepatic failure. Usually patients die due to hepatic cirrhosis within 4 years. Sometimes myopathy of the heart and skeletal muscle is also present. In these cases, the clinical onset is often later than in typical cases. We report on two brothers with primarily cardiac manifestation and late onset of the disease. The older one started to suffer from progressive dilated cardiomyopathy at the age of 18 years, presenting with severe heart failure, hepatosplenomegaly, ascites and peripheral oedema. He also demonstrated myopathy and muscular atrophy especially of the shoulder and lower limbs. Initially he improved on medical therapy, but one year later severe heart failure recurred followed shortly afterwards by sudden cardiac death. Right heart and skeletal muscle biopsies were performed while he was alive. These, as well as the autopsy, revealed massive accumulation of polyglucosan bodies. In both heart and skeletal muscle, complete branching enzyme deficiency could be proven. His 14-year-old brother showed similar clinical findings of mild dilated cardiomyopathy. His muscle biopsy also revealed polyglucosan body myopathy. Thus, in young patients presenting with congestive cardiomyopathy, type IV glycogenosis has to be considered in the differential diagnosis.

1,4-alpha-Glucan Branching Enzyme↗
PubMed1992

The Scottish Motor Neuron Disease Register: a prospective study of adult onset motor neuron disease in Scotland. Methodology, demography and clinical features of incident cases in 1989.

The Scottish Motor Neuron Disease Register (SMNDR) is a prospective, collaborative, population based study of motor neuron disease (MND) in Scotland. The register started in January 1989 with the aim of studying the clinical and epidemiological features of MND by prospectively identifying incident patients. It is based on a system of registration by recruitment from multiple sources, followed by the collection of complete clinical data and follow up, mainly through general practitioners. In this report the register's methodology and the demography and incidence data for the first year of study are presented. One hundred and fourteen newly diagnosed patients were identified in 1989 giving a crude incidence for Scotland of 2.24/100,000/year. Standardised incidence ratios showed a non-significant trend towards lower rates in north eastern regions and island areas.

Adult↗
PubMed1987

Study on relationship between the muscular pathology and prognosis in the motor neuron disease.

In order to investigate the mode of progression in motor neuron disease (MND), and find if there is any correlation between the muscular pathology and prognosis of the disease, activity index (ACT), atrophy factor of type I muscle fibers (A1), and type II (A2), hypertrophy factor of type I muscle fibers (H1), and type II (H2) and grouping factors were analyzed. Thirty-five patients with MND were evaluated whether there were any factors correlated to the severity of ACT. Among various factors, A1 showed the most significant change to the severity of ACT. Therefore, it was suggested that A1 was best correlated with the rate of prognosis of the disease process. Probably involvement of the motor neuron innervating type I muscle fibers takes place in the earlier stage than that of the neurons of type II, or there might be some difference of innervation ratio between type I and type II fibers. Further investigation is necessary to evaluate the relationship between the actual prognosis of these patients and their ACT by follow up study.

Adult↗
PubMed2000

[Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)].

A 51-year-old woman with autosomal dominant inheritance presented with finger tremor, atrophy of the dorsal interosseous muscles, and pes cavus. No muscular atrophy was noted in either leg. The deep tendon reflexes were only present for the biceps muscle of the arm, although they were decreased. Progression was extremely slow. Biopsy of the sural nerve revealed onion bulbs. The patient was diagnosed as a case of Roussy-Lévy syndrome. Her father and son had same symptoms. Typical Charcot-Marie-Tooth disease type 1A (CMT 1A) was also detected in the same family. All 4 cases revealed duplication of the PMP22 gene. In view of the molecular genetic findings, her Roussy-Lévy syndrome was considered to resemble CMT 1A.

Charcot-Marie-Tooth Disease↗
PubMed1992

Correlation between knee roentgenogram changes and clinical symptoms in osteoarthritis.

The main purpose of this study was to analyze the relationship between clinical symptoms and roentgenographic changes in patients with incipient osteoarthritis of the knees (OA). One hundred and sixty-two patients (126 women, 36 men, mean age 59 years) with established osteoarthritis of the knee were examined. Patients performed subjective self-assessment using Lequesne's questionnaire (index of severity for OA of the knee) and had frontal and lateral roentgenograms of both knees. Validity of the indices as reflections of individual symptoms was documented. A statistically significant correlation was found between clinical and patient indices (r = 0.327, p < 0.0001) as well as a very weak correlation between the clinical and roentgenogram indices (r = 0.196, p = 0.286). However, there was no correlation between the patient index and roentgenogram index (r = 0.065, p = 0.47). For the assessment of severity and progression of the disease, items reflecting acute irritation (swelling, effusion, increased joint temperature, pain during passive motion) were more reliable than items reflecting chronicity (muscular atrophy, decreased range of motion, crepitus). This study confirmed that Lequesne's questionnaire is a suitable tool for assessing subjective symptoms as well as for generating a condensed measure of disease severity. In addition, sclerosis, narrowing and osteophytes were proved to be important features characterizing the OA process.

Female↗
PubMed1990

[Pentose phosphate pathway in neuromuscular diseases--evaluation of muscular glucose 6-phosphate dehydrogenase activity and RNA content].

There have been several reports concerning elevated glucose 6 phosphate dehydrogenase (G6PDH), the rate-limiting enzyme of pentose phosphate pathway (PPP), in experimental muscle disturbances. PPP produces ribose, a substrate of RNA, and NADPH which is a cofactor of fatty acid synthesis. PPP also has a role of by-path pathway of glycolysis. Then, we evaluated G6PDH activity and RNA content in biopsied quadriceps muscle. The subjects were muscles from 23 neurogenic amyotrophy, 54 myopathy including 19 progressive muscular dystrophy (PMD), and 10 controls whose muscle was obtained at orthopedic surgery. Neurogenic amyotrophy consisted of 12 amyotrophic lateral sclerosis (ALS), 4 spinal muscular atrophy and 7 peripheral nerve disorders. Myopathy were 3 Duchenne dystrophy, 2 congenital muscular dystrophy, 8 limb-girdle type dystrophy, 6 facio-scapular +-humeral muscular dystrophy, 6 myotonic dystrophy, 6 mitochondrial myopathy, 5 endocrinological myopathy, 3 hypokalemic myopathy, 8 polymyositis and 4 other inflammatory myopathy. The assays of G6PDH and RNA were performed after Glock's and Fleck's methods, respectively. The control values were 3.6 +/- 0.8 nmol formed NADPH/mg protein/min (M +/- SD) in G6PDH and 0.69 +/- 0.17 micrograms/mg non-collagen protein in RNA. Most cases of PMD, as well as some cases of ALS, hyperthyroidism, mitochondria hypokalemic myopathy, inflammatory myopathy showed increased values (beyond M + 2SD of control) both in G6PDH and RNA. There were significant positive correlations between G6PDH activity and RNA content in PMD and motor neuron disease. Myotonic dystrophy showed normal values in both G6PDH and RNA. Half number of cases of mitochondrial myopathy demonstrated increased G6PDH alone.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1977

Changes in muscle action potentials of patients with diseases of motor units following the infusion of a peptide fragment of ACTH.

The polypeptides ACTH and ATCH4-10 (OI 63) witha sequence of amino acids H-Met-Glu-His-Phe-Arg-Trp-Gly-OH, have similar stimulating effects on motor units in lower mammals. Their actions differ primarily in that ACTH4-10 is not corticotropic. Since the corticotropic action of ACTH frequently presents a problem during its clinical use in treatment of motor unit diseases, the action of ACTH4-10 was studied in two patients with muscular atrophy. Prior to administration of ACTH4-10, stimulation of M. oppenens pollicis through the median nerve evoked muscle action potentials in both patients which progressively declined in amplitude. This decline was not observed subsequent to the infuscion of ACTH4-10 (3, 6 and 15 mg). The effect lasted partially in excess of at least 2 h. It is suggested that ACTH4-10 produces this effect by direct action on a peripheral component of the motor unit and/or indirectly by an action on the central nervous system.

Action Potentials↗