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PubMed1963

ABNORMAL MYOGLOBIN ULTRAVIOLET SPECTRUM IN DUCHENNE TYPE OF PROGRESSIVE MUSCULAR DYSTROPHY.

Met-myoglobin isolated from gluteal muscle of cases with Duchenne type of progressive muscular dystrophy showed an abnormal ultraviolet spectrum. The maximum of the spectrum at pH 7.0 was at 275 mmicro, in contrast to that at 281 m/ A in normal met-myoglobin. Such an abnormality was not found in the limb-girdle type of dystrophy and in progressive spinal muscular atrophy. The results indicate the presence of an abnormal myoglobin in the Duchenne type of progressive muscular dystrophy.

Hemoglobins↗
PubMed1988

Respiratory load compensation in neuromuscular disorders.

First-breath ventilatory responses to graded elastic (delta E) and resistive (delta R) loads from 10 people with spinal muscular atrophy (SMA), 15 people with Duchenne muscular dystrophy (DMD), and 80 able-bodied people were compared. The SMA and DMD groups produced equal tidal volume, respiratory frequency, inspiratory duration (TI), expiratory duration, mean inspiratory airflow, and duty cycle responses to both delta E and delta R. Thus SMA (primarily a motoneuron disorder) and DMD (primarily a muscle disorder) have the same net effect on loaded breathing responses. The SMA and DMD groups failed to duplicate the normal group's short expirations during delta E, long inspirations during delta R, and thus, extended duty cycles during both delta E and delta R. The deficit in load compensation therefore was due to impaired regulation of respiratory timing (reflecting neural mechanisms) but not airflow defense (reflecting mechanical and neural mechanisms). One-fifth of the normal but none of the SMA or DMD subjects actively generated an "optimal" TI response (defined theoretically as TI greater than 160% control during large delta R and TI less than 75% control during large delta E). This lack of optimal responses, which is the same abnormality exhibited by quadriplegic people, suggests that SMA and DMD also impair human ability to discriminate between large delta R and delta E. These findings support the hypothesis that neuromuscular disorders can lead to disturbances in respiratory perception.

Adult↗
PubMed1999

Management of the respiratory complications of neuromuscular diseases in the pediatric intensive care unit.

Pediatric neuromuscular diseases such as Duchenne muscular dystrophy and spinal muscular atrophy cause pulmonary compromise. In severely affected patients, upper respiratory tract infections exacerbate lower respiratory tract secretion retention, with the potential for pneumonia, pulmonary atelectasis, and respiratory failure. In the pediatric intensive care unit, effective treatment includes noninvasive positive pressure ventilation and manual and mechanical mucus clearance techniques. A practical approach to commonly encountered respiratory complications in pediatric neuromuscular diseases is presented in this review.

Adolescent↗
PubMedDate not supplied

Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease.

Few studies have examined the effect of pain on the quality of life of individuals with slowly progressive neuromuscular disease (NMD). The purpose of this study was to determine the frequency and extent to which subjects with slowly progressive NMD report pain and the association between pain and health-related quality of life in persons with NMD. The study design was a descriptive, nonexperimental survey. Of a total of 1,432 subjects with slowly progressive NMDs recruited from a university-based NMD clinic and the membership rosters of worldwide NMD support organizations, 859 agreed to participate. The primary measurement tool used was the Medical Outcomes Study SF-36 health survey. Our results indicated that, with the exception of adult spinal muscular atrophy (SMA), the frequency and severity of pain reported in slowly progressive NMDs was significantly greater than levels of pain reported by the general US population and was comparable to pain reported by subjects with osteoarthritis and chronic low back pain. There was a significant correlation between increased pain and lower levels of general health, vitality, social function, and physical role. Pain was moderately associated with increased fatigue, inability to cope adequately with stress, and sleep disturbance. In conclusion, with the exception of adult SMA, the frequency and severity of pain reported in slowly progressive NMDs was significant.

Activities of Daily Living↗
PubMed1989

Elevated calmodulin levels and reduced calmodulin-stimulated calcium-ATPase in Duchenne progressive muscular dystrophy.

We determined the calmodulin concentration and Ca2+-ATPase activity in subcellular fractions recovered from samples of vastus lateralis muscle obtained from 18 patients with Duchenne muscular dystrophy, 10 patients with other primary myopathies, 5 with spinal muscular atrophy, and 16 age-matched controls. Calmodulin levels were increased in the cytosol, plasmalemma, and heavy sarcoplasmic reticulum fractions from Duchenne dystrophy patients; the greatest increases occurred at early stages of disease or in mildly progressive cases. The total Ca2+-ATPase activities were decreased in the Duchenne dystrophy muscles; calmodulin caused a minimal stimulation of the activity in calmodulin-depleted membranes from Duchenne dystrophy compared with control membranes. The changes in calmodulin concentration and Ca2+-ATPase activity complement previous observations of reduced calsequestrin and dystrophin concentrations in Duchenne dystrophy muscles and suggest that these muscles lose calcium regulatory functions at early stages of the disease process.

Adenosine Triphosphatases↗
PubMed1988

The effects of strength training in patients with selected neuromuscular disorders.

Five subjects with spinal muscular atrophy, limb-girdle or facioscapulohumeral muscular dystrophy, were studied. Measurements pre- and post-training included: maximum isometric, dynamic and isokinetic strength, in single-arm curl and double-leg press exercises; contractile properties of the elbow flexors; computerized tomography of the upper arms and thighs; muscle biopsies from the biceps brachii muscle of each arm in three subjects. Dynamic weight training was performed 3 times per week for 9 wk; exercises comprised unilateral arm curls (the contralateral arm acted as a control), and bilateral leg press. Strength increases in the trained arm were between 19 and 34%, and from -14 to +25% in the control arm; leg strength increased from 11 to 50%. Moreover, the pretraining maximum load could be lifted from 3 to 48 times in the trained limbs, and from 1 to 13 times in an untrained limb before fatigue. Contractile properties of the elbow flexors were unchanged with training, but pre-intervention, three subjects demonstrated incomplete motor unit activation. Most of the gains in strength were apparently due to a neural adaptation, rather than muscle hypertrophy. The tomograms and biopsy samples were inadequate to determine muscle, or muscle fiber areas with confidence; they did indicate however, no additional overt muscle structural damage. Strength training may be a potentially useful therapeutic option in the management of selected neuromuscular disorders.

Adult↗
PubMed2001

The treatment of scoliosis in muscular dystrophy using modified Luque and Harrington-Luque instrumentation.

We have treated 101 patients with scoliosis secondary to muscular dystrophy over a 13-year period; 64 had Duchenne's muscular dystrophy, 33 spinal muscular atrophy and four congenital muscular dystrophy. The patients underwent a modified Luque (87) or Harrington-Luque instrumentation (14) combined with a limited Moe fusion in all except 27 cases. A mean of 13 levels was instrumented. The mean preoperative sitting Cobb angle was 84 degrees (10 to 150) and the mean postoperative angle 40 degrees (52% correction). Most patients (96%) were able to discard their braces and there was a high level of patient satisfaction (89.6%). Less correction was seen for severe curves, and there was a greater recurrence of postoperative pelvic tilt in those patients not instrumented to the sacrum. Although the incidence of minor or temporary complications was high, these occurred chiefly in the early high-risk patients with very severe curves and considerable pre-existing immobility.

Adolescent↗
PubMed2001

2 Years' experience with inspiratory muscle training in patients with neuromuscular disorders.

PURPOSE: The aim of our study was to assess the long-term effects of specific inspiratory muscle training (IMT) in patients with neuromuscular disorders (NMDs) who have various degrees of respiratory impairment. PATIENTS AND METHODS: Twenty-seven patients with NMDs (Duchenne's muscular dystrophy, 18 patients; spinal muscular atrophy, 9 patients) underwent 24 months of IMT. Patients were divided into three groups according to their vital capacity (VC) values. VC was measured as the parameter for the respiratory system involvement of the disease. Maximal inspiratory pressure (PImax) was assessed as the parameter for respiratory muscle strength, and the results of the 12-s maximum voluntary ventilation test (12sMVV) were assessed as the parameter for respiratory muscle endurance. Pulmonary and inspiratory muscle function parameters were assessed 6 months before training, at the beginning of training, and then every 3 months. RESULTS: The PImax values improved in group A (VC, 27 to 50% predicted) from 51.45 to 87.00 cm H(2)O, in group B (VC, 51 to 70% predicted) from 59.38 to 94.4 cm H(2)O, and in group C (VC, 71 to 96% predicted) from 71.25 to 99.00 cm H(2)O. The 12sMVV values improved in group A from 52.69 to 69.50 L/min, in group B from 53.18 to 62.40 L/min, and in group C from 59.48 to 70.5 L/min. For all three groups, there was a significant improvement of PImax (p < 0.007) and 12sMVV (p < 0.015) until the 10th month when a plateau phase was reached with no decline in the following month until the end of training. CONCLUSION: With IMT, respiratory muscle function can be improved in the long term of up to 2 years.

Adolescent↗
PubMed2004

Use of the mechanical in-exsufflator in pediatric patients with neuromuscular disease and impaired cough.

BACKGROUND: Impaired cough secondary to weakness from neuromuscular disease (NMD) can cause serious respiratory complications, including atelectasis, pneumonia, small airway obstruction, and acidosis. The mechanical in-exsufflator (MI-E) delivers a positive-pressure insufflation followed by an expulsive exsufflation, thereby simulating a normal cough. Use of the MI-E in adults with impaired cough results in improved cough flows and enhanced airway clearance. However, only limited reports of MI-E use in children exist. OBJECTIVE: To determine the safety, tolerance, and effectiveness of the MI-E in a pediatric population. METHOD: Retrospective medical record review. PARTICIPANTS: Sixty-two patients (34 male patients) observed in a pediatric pulmonary program with NMD and impaired cough in whom MI-E therapy was initiated. Median age at initiation of MI-E use was 11.3 years (range, 3 months to 28.6 years). Diagnoses included the following: Duchenne muscular dystrophy (17 patients); spinal muscular atrophy, types I and II (21 patients); myopathy (12 patients); other nonspecific NMD (12 patients). Mechanical ventilation via tracheostomy was used in 29 patients, and 25 patients used noninvasive ventilation. RESULTS: The median duration of use was 13.4 months (range, 0.5 to 45.5 months). One infant died before using MI-E at home. Five patients chose not to continue MI-E therapy. Complications were reported in two patients, but ultimately they used the MI-E device. Chronic atelectasis resolved in four patients after beginning MI-E therapy, and five patients experienced a reduction in the frequency of pneumonias. CONCLUSION: In 90% of our study population, the use of an MI-E was safe, well-tolerated, and effective in preventing pulmonary complications.

Adolescent↗
PubMedDate not supplied

[Validation of the EK functional motor scale in the Portuguese language].

OBJECTIVE: To validate a Portuguese version of the EK scale (Egen Klassifikation), that was developed in Denmark for patients with Duchenne muscular dystrophy, and spinal muscular atrophy. METHODS: An English version of the EK scale was translated into the Portuguese language as spoken in Brazil. This scale was applied to 26 male patients (mean age = 12.7 +/- 4.0 years) with Duchenne muscular dystrophy. Patients also answered questions of a Portuguese version of the Barthel index questionnaire, and had their right and left hand grip forces measured with a dynamometer. RESULTS: The mean total EK scale score was 8.1 +/- 7.3 and the Barthel index 54.0 +/- 26.2. The mean hand grip force was 12.7 +/- 17.2 % predicted for the right hand, and 14.6 +/- 19.8 % predicted for the left hand. The EK scale scores showed highly significant statistical correlations with age (r= 0.596, p= 0.0013), right hand grip force (r= -0.556, p= 0.0032), left hand grip force (r= -0.623, p=0.0007), and Barthel index (r= -0.928, p < 0.0001). CONCLUSION: This translated Portuguese version of the EK scale is an adequate tool to be used for Brazilian Duchenne muscular dystrophy patients.

Adolescent↗
PubMed1990

Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe.

A 31-year-old man previously investigated for a neuromuscular disorder was diagnosed as having either limb-girdle dystrophy, spinal muscular atrophy, or Becker muscular dystrophy. Extensive clinical and special neurological investigations failed to clarify this differential diagnosis. However, recent DNA studies have shown a deletion of the dystrophin gene, thereby providing an unequivocal diagnosis of Becker muscular dystrophy. The application of molecular genetic techniques in the diagnosis of inherited neuromuscular disorders is discussed.

Adult↗
PubMed1992

Molecular genetics and clinical aspects of inherited disorders of nerve and muscle.

Rapid progress has been made in elucidating the molecular genetic basis of several neuromuscular disorders in the past year. Candidate genes have been identified or analysed in hereditary motor and sensory neuropathy (HMSN) type I, X-linked bulbospinal neuronopathy and non-dystrophic myotonic disorders, and further mutations causing amyloidosis have been identified. A familial amyotrophic lateral sclerosis (ALS) locus maps to chromosome 21 in some families, and the chronic childhood spinal muscular atrophy (SMA), facioscapulohumeral muscular dystrophy (FSHD) and malignant hyperthermia loci have been localized more precisely.

Amyloidosis↗
PubMed2004

Muscle disorders in pediatric patients in King Chulalongkorn Memorial Hospital.

The authors retrospectively studied histopathologic findings and diagnoses of muscle specimens taken from 188 pediatric patients presenting with clinical neuromuscular disorders in King Chulalongkorn Memorial Hospital between August 1991 and December 2003. Eighty patients (67.8%) established the definite diagnosis by histopathological findings of muscle specimens. About 18.6, 17.7, 7.6, 5.9, 5.0, 3.4, 2.5 and 1.7 percent of the total number of patients were diagnosed as Duchenne muscular dystrophy, spinal muscular atrophy, congenital myopathies, mitochondrial disease, inflammatory myopathies, Becker muscular dystrophy, congenital muscular dystrophy and vacuolar myopathies respectively. Since the histopathological findings in muscle helped to establish the definite diagnosis in most pediatric patients in the present study, thus muscle biopsy is essential for establishing a definite diagnosis in any patient with a suspected neuromuscular disorder.

Adolescent↗
PubMedDate not supplied

Fractures in myopathies.

The paper reports the results obtained in a study on the frequency of fractures in patients affected with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy, types II and type III; the patients were observed between 1974 and 1988 at the muscle clinic of the Rizzoli Orthopaedic Institute. Out of a total of 238 cases, 36 (15.1%) reported one or more fractures during the follow-up period. For each fracture, age, functional capacity, the particular circumstances in which fractures occurred, site and type of fracture, medical treatment and consequences were all considered. A protocol for fracture prevention in neuromuscular patients is proposed, and suitable methods of treatment suggested.

Adolescent↗
PubMed1993

[Indicators for an impending need of artificial respiration in patients with muscular dystrophy].

In 1990 we examined 25 patients with Duchenne Muscular Dystrophy (DMD) or Spinal Muscular Atrophy type II (SMA-II). The purpose was to elucidate their general physical capability and find indicators for future need of artificial ventilation. We used interviews and measurements. The interviews were based on classifications described as 1) EAMDA, 2) VIGNOS, 3) BROOKE for use with DMD patients. Our own classification (called EK) is described and used. Moreover, we measured five parameters for the mechanical lung function, the strength of eight great muscle groups, and anthropometrical data. In January 1992, between two and 18 months after our examination, seven of the patients (all DMD) required artificial ventilation. Among the patients who needed artificial ventilation, we found the DMDs to have the lowest physical capability, as measured by the interview (EK and EAMDA) and the smallest values for forced vital capacity (FVC) and peak expiratory flow rate (PEF). All 11 patients with SMA-II could administer their lives without ventilator. Comparing their values with the DMD group, we would expect that several would need artificial ventilation. The reason why the SMA-II patients can manage without artificial ventilation is not clarified. Combining our classification (EK) and the value for FVC, we can predict the need for artificial ventilation among the participating DMD patients.

Adolescent↗
PubMed1993

Long-term nasal ventilation in neuromuscular disorders: report of a consensus conference.

Following the colloquium entitled "Nasal Ventilation and Neuromuscular Disease", which took place in Lyon, France, October 24, 1991, a group of authorities on neuromuscular disorders met to establish a consensus concerning the application of this technique, in the clinical setting, for patients with Duchenne's muscular dystrophy, non-Duchenne myopathies and the spinal muscular atrophies. This report summarizes recommendations issuing from this conference. The conclusions drawn from this work should not be applied to patients with other diagnoses.

Humans↗
PubMedDate not supplied

Diagnostic value of satellite potentials in clinical EMG.

Complex motor unit potentials (CMUPs) with satellites were recorded and analysed in 231 electromyograms of patients with spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD) and a healthy control group. In the control adult group only few CMUPs with satellites were found; no CMUP were found in children. In SMA and DMD patients the CMUPs were present with similar frequency but their morphology, i.e. shape, duration, amplitude of the main and satellite spike components and number of satellites was different. In ALS patients a significant difference between severely involved interosseous muscle and proximal muscles was found. The pathomechanism of CMUPs with satellites is different in myopathic and neurogenic processes, in both however they reflect remodelling of the motor unit. In myopathy they reflect muscle fiber diameter variability and distribution of preserved muscle fibers within the motor unit under study. In neurogenic lesion the CMUPs with satellites are the result of increasing desynchronisation during progressive de- and reinnervation.

Adolescent↗