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PubMed2004

Muscle MRI findings of X-linked spinal and bulbar muscular atrophy.

We report here muscle MRI findings of the lower limb in X-linked spinal and bulbar muscular atrophy (SBMA). T1-weighted imaging of muscle MRI disclosed that the thigh muscles, including the semimembranosus, biceps femoris longus and the vastus lateralis muscles, showed high intensity signals with atrophy. Contrarily, the sartorius, gracilis and rectus femoris muscles were comparably preserved. Not only the thigh muscles, but also the calf muscles including the gastrocnemius medialis and lateralis, and soleus muscles showed high intensity signals. In amyotrophic lateral sclerosis (ALS), the leg muscles are generally atrophic, but the selective pattern of fatty degeneration, seen in SBMA was not observed. Muscle MRI is a useful method of estimating the distribution and severity of SBMA in affected muscles.

Disease Progression↗

PubMed1995

Sarcolemmal disruption in reloaded atrophic skeletal muscle.

The purpose of this study was to determine whether reloading of atrophied skeletal muscle after 28 days of hind-limb unloading (HU) would produce significant sarcolemmal membrane disruption before frank necrosis. Soleus and plantaris muscles were atrophied by HU. Adult female Wistar rats (N = 13) were killed at 28 days of unloading and 4 and 7 days of reloading after HU. Rat serum albumin was used as a marker for muscle fiber disruption. Dark intracellular staining with horseradish peroxidase-conjugated anti-rat serum albumin antibody was interpreted as evidence of membrane rupture. There was a significantly different time course of disruption between plantaris and soleus muscles, with a negative correlation between cell size and occurrence of disruption. Fourteen percent of plantaris fibers were wounded after HU, peaking at day 4 of reloading (20% of cross-sectional area). Soleus demonstrated disruption only on reloading peaking in severity at day 7 (14% of fibers). It was demonstrated that sarcolemmal disruption due to atrophy and reloading does not always progress to necrosis and degeneration by the 7th day of recovery.

Animals↗

PubMed1994

Disorders of the motor neurone.

The spinal muscular atrophies (SMAs) are defined as a group of inherited disorders sharing the common pathological feature of degeneration of the anterior horn cells of the spinal cord and, in some cases, additionally of the bulbar motor nuclei. They are classified according to clinical features, including severity and distribution of muscle weakness and on their modes of inheritance. The SMAs are not uncommon: SMA type I (severe, acute infantile SMA) alone has a gene frequency in the UK estimated at 0.006. Together they represent a significant source of morbidity and mortality. Over the past 3 years, two major advances have been made towards understanding the molecular basis of these clinically heterogeneous disorders. First, in 1990, it was reported that all three forms of childhood-onset proximal SMA were linked to probes mapping to the proximal long arm of chromosome 5. Significant progress has been made towards isolating the gene or genes responsible, and a protocol for prenatal disease prediction in families with a previously severely affected child has been established. Second, in 1991, the molecular defect in adult-onset X-linked spinal and bulbar muscular atrophy was defined as an expansion of a (CAG)n trinucleotide repeat which encodes a string of glutamine residues in the first exon of the androgen receptor. Little progress has been made in elucidating the molecular pathology of the other SMAs. None of them has been linked to chromosome 5q markers, or indeed to markers elsewhere; the conditions are rare and pedigrees generally small. When the gene (or genes) on proximal 5q underlying SMA types I, II and III is cloned, mutations in this can then be sought in the other SMAs. The product of the chromosome 5q gene presumably plays a crucial role in maintaining the integrity of motor neurones, so determination of its structure and function may well have consequences far beyond those pertaining to the inherited SMAs. The identification of pathogenic mutations in the SOD-1 gene in familial amyotrophic lateral sclerosis is of great interest, although it is not clear that similar mechanisms contribute to the more common sporadic form of the disease.

Age of Onset↗

PubMed2002

Motoneuron death in normal and spinal muscular atrophy-affected human fetuses.

The onset and sequence of motoneuron death in the lumbar part of spinal cord of seven control and five affected fetuses carrying deletion of exon 7 in the SMN gene were studied by light and electron microscopy. Naturally occurring motoneuron death in control fetuses was detected between 8 and 13 weeks of gestation. In affected fetuses motoneuron death was prolonged and also observed at 16 and 20 weeks of gestation. In addition, motoneurons in the affected fetuses displayed nuclear abnormalities as early as 16 weeks of gestation and the changes progressed as the affected fetuses developed and can be considered first signs of motoneuron degeneration.

Apoptosis↗

PubMedDate not supplied

Molecular diagnosis of neurological disorders in India.

The last decade has seen remarkable advances in sequencing the human genes. There are more genes expressed in the brain than any other organ. The knowledge regarding the genome has led to tremendous progress in molecular characterization of the genes responsible for neurological disorders. The present review covers the molecular diagnosis of Duchenne muscular dystrophy, spinal muscular atrophy, and fragile X syndrome. These are three neurologic disorders common in India for which facilities of molecular diagnosis are currently available in the country. As a result of funding by the Department of Biotechnology of the Government of India, a number of molecular diagnostic centers are being established. It is hoped that molecular diagnosis of many more neurological disorders will soon become available in India.

Adult↗

PubMed1981

Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome).

The authors describe the clinical and electrophysiological features in 2 cases of ponto-bulbar palsy with deafness, and the clinical course and post-mortem findings in a sibling of one of these, who died in infancy, and who appears to have suffered from the same disease. The cases are compared with 17 previously published cases, and the disease is discussed in relation to other progressive neurological diseases of childhood.

Adolescent↗

PubMed2005

Rapid progression of chondral disease in the lateral compartment of the knee following meniscectomy.

We present 2 cases of severe, rapidly progressive chondral disease in the lateral compartment within 12 months after meniscectomy. In both cases, the lateral compartment was salvaged with simultaneously performed cartilage repair techniques and meniscal transplantation. The first case is of a 16-year-old boy who suffered a complex irreparable posterior horn lateral meniscus tear that was treated with an aggressive partial meniscectomy, and developed a rapid onset of severe lateral compartment symptoms associated with a focal grade IV chondral defect of the lateral femoral condyle within 10 months of his index meniscectomy. The second case is that of an athletic 43-year-old orthopaedic surgeon who suffered a complex lateral meniscus tear that required a near total lateral meniscectomy. Within 5 months of the lateral meniscectomy, he developed severe lateral symptoms with a focal grade IV chondral defect of the lateral femoral condyle. In both cases, the articular cartilage defects were treated with osteochondral grafting at the time of lateral meniscus transplantation with excellent results at 2-year follow-up. These cases highlight the significant need for a heightened the awareness of the relatively increased risk of rapid lateral compartment degeneration following lateral meniscectomy. This, in combination with the appropriate use of cartilage restoration techniques, provides the potential to salvage or prevent rapid onset, unicompartmental degenerative disease, and the ability to reduce symptoms and improve function in these challenging patients.

Adolescent↗

PubMed2004

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Limb girdle muscular dystrophy 2A is a common variant secondary to mutations in the calpain 3 gene. A proportion of patients has early and severe contractures, which can cause diagnostic difficulties with other conditions. We report clinical and muscle magnetic resonance imaging findings in seven limb girdle muscular dystrophy 2A patients (four sporadic and three familial) who had prominent and early contractures. All patients showed a striking involvement of the posterior thigh muscles. The involvement of the other thigh muscles was variable and was related to clinical severity. Young patients with minimal functional motor impairment showed a predominant involvement of the adductors and semimembranosus muscles while patients with restricted ambulation had a more diffuse involvement of the posterolateral muscles of the thigh and of the vastus intermedius with relative sparing of the vastus lateralis, sartorius and gracilis. At calf level all patients showed involvement of the soleus muscle and of the medial head of the gastrocnemius with relative sparing of the lateral head. MRI findings were correlated to those found in two patients with the phenotype of limb girdle muscular dystrophy 2A without early contractures and the pattern observed was quite similar. However, the pattern observed in limb girdle muscular dystrophy 2A is different from that reported in other muscle diseases such as Emery-Dreifuss muscular dystrophy and Bethlem myopathy which have a significant clinical overlap with limb girdle muscular dystrophy 2A once early contractures are present. Our results suggest that muscle MRI may help in recognising patients with limb girdle muscular dystrophy 2A even when the clinical presentation overlaps with other conditions, and may therefore, be used as an additional investigation to target the appropriate biochemical and genetic tests.

Adolescent↗

PubMed1994

Neuromuscular adaptation to actual and simulated weightlessness.

The chronic "unloading" of the neuromuscular system during spaceflight has detrimental functional and morphological effects. Changes in the metabolic and mechanical properties of the musculature can be attributed largely to the loss of muscle protein and the alteration in the relative proportion of the proteins in skeletal muscle, particularly in the muscles that have an antigravity function under normal loading conditions. These adaptations could result in decrements in the performance of routine or specialized motor tasks, both of which may be critical for survival in an altered gravitational field, i.e., during spaceflight and during return to 1 G. For example, the loss in extensor muscle mass requires a higher percentage of recruitment of the motor pools for any specific motor task. Thus, a faster rate of fatigue will occur in the activated muscles. These consequences emphasize the importance of developing techniques for minimizing muscle loss during spaceflight, at least in preparation for the return to 1 G after spaceflight. New insights into the complexity and the interactive elements that contribute to the neuromuscular adaptations to space have been gained from studies of the role of exercise and/or growth factors as countermeasures of atrophy. The present chapter illustrates the inevitable interactive effects of neural and muscular systems in adapting to space. It also describes the considerable progress that has been made toward the goal of minimizing the functional impact of the stimuli that induce the neuromuscular adaptations to space.

Adaptation, Physiological↗

PubMed1992