BACKGROUND: Sporadic late onset nemaline myopathy (SLONM) is a muscle disorder characterized by the presence of nemaline rods in muscle fibers. SLONM has no known genetic cause but has been associated with monoclonal gammopathy of undetermined significance and with human immunodeficiency virus (HIV) infection. Human T-cell leukemia virus-1 (HTLV-1) is a known causative agent of adult T-cell leukemia/lymphoma and HTLV-1 associated myelopathy/tropical spastic paraplegia (HAM/TSP), a chronic inflammatory neurological disease. HTLV-1 has been reported to be implicated in inflammatory myopathies, as well as in HIV infection.; however, there have been no reports of an association between HTLV-1 infection and SLONM to date.
METHODS: A 70-year-old Japanese woman presented with gait disturbance, lumbar kyphosis, and respiratory dysfunction. The diagnosis of HAM/TSP with SLONM was made based on characteristic clinical symptoms of HAM/TSP, such as spasticity in the lower extremities, and cerebrospinal fluid test results; and of SLONM, such as generalized head drooping, respiratory failure, and muscle biopsy results. Steroid treatment was initiated and improvement in her stooped posture was observed after 3 days of treatment.
CONCLUSIONS: This is the first case report of SLONM combined with HTLV-1 infection. Further studies are needed to elucidate the relationship between retroviruses and muscle diseases.

Very little research has investigated the effects of ultraendurance exercise on the bioenergetic status of muscle. The primary objective of this case study was to characterize the changes that occur in skeletal muscle mitochondria in response to a 100-km ultramarathon in monozygotic twins. A second objective was to determine whether mitochondrial function is altered by consuming a periodized low-carbohydrate, high-fat diet during training compared with a high-carbohydrate diet.
One pair of male monozygotic twins ran 100 km on treadmills after 4 wk of training on either a high-carbohydrate or periodized low-carbohydrate, high-fat diet. Muscle biopsies were collected 4 wk before the run, as well as 4 and 52 h postrun. Blood draws were also performed immediately before as well as 4 and 52 h after the run.
Four hours postrun, respiratory capacity, citrate synthase activity, and mitochondrial complex protein content were decreased. Two days later, both twins showed signs of rapid recovery in several of these measures. Furthermore, blood levels of creatine phosphokinase, C-reactive protein, and aspartate transaminase were elevated 4 h after the run but partially recovered 2 d later.
Although there were some differences between the twins, the primary finding is that there is significant mitochondrial impairment induced by running 100 km, which rapidly recovers within 2 d. These results provide ample rationale for future investigations of the effects of ultraendurance activity on mitochondrial function.

The avian pectoralis muscle demonstrates incredible plasticity. This muscle is the sole thermogenic organ of small passerine birds, and many temperate small passerines increase pectoralis mass in winter, potentially to increase heat production. Similarly, this organ can double in size prior to migration in migratory birds. In this Commentary, following the August Krogh principle, I argue that the avian pectoralis is the perfect tissue to reveal general features of muscle physiology. For example, in both mammals and birds, skeletal muscle fiber diameter is generally accepted to be within 10-100 µm. This size constraint is assumed to include reaction-diffusion limitations, coupled with metabolic cost savings associated with fiber geometry. However, avian muscle fiber structure has been largely ignored in this field, and the extensive remodeling of the avian pectoralis provides a system with which to investigate this. In addition, fiber diameter has been linked to whole-animal metabolic rates, although this has only been addressed in a handful of bird studies, some of which demonstrate previously unreported levels of plasticity and flexibility. Similarly, myonuclei, which are responsible for protein turnover within the fiber, have been forgotten in the avian literature. The few studies that have addressed myonuclear domain (MND) changes in avian muscle have found rates of change not previously seen in mammals. Both fiber diameter and MND have strong implications for aging rates; most aging mammals demonstrate muscular atrophy (a decrease in fiber diameter) and changes in MND. As I discuss here, these features are likely to differ in birds.

Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations are responsible for an autosomal dominant (AD) progressive myopathy, characterized by the presence of rimmed vacuoles and by a reduction in the number and size of type 2A fibers, and a recessive early onset myopathy characterized by complete loss of type 2A fibers. Recently, a patient with a homozygous mutation but presenting a dominant phenotype has been reported.
The patient was examined thoroughly and two muscle biopsies were performed through the years. NGS followed by confirmation in Sanger sequencing was used to identify the genetic cause.
We describe the second case presenting with late-onset ophthalmoparesis, ptosis, diffuse muscle weakness, and histopathological features typical for AD forms but with a recessive MYH2 genotype.
This report contributes to expand the clinical and genetic spectrum of MYH2 myopathies and to increase the awareness of these very rare diseases.

Fingerprint bodies are observed in a variety of clinical situations with no definite genetic cause identified so far. We report for the first time the association of fingerprint bodies with rods in a patient who developed a slowly progressive myopathy affecting the face and limb extremities. Ultrastructural examination first disclosed fingerprint bodies and on a second biopsy, associated cytoplasmic bodies and rods. Next Generation Sequencing panel of congenital nemaline myopathy genes allowed the identification of two novel variants, a deleterious missense variant (c.1628G>T, p.Arg543Leu) located in the WASP-homology 2 domain, and a deletion (c.366delG, p.Lys122AsnFs*6) in the LMOD3 gene, generally causing severe nemaline myopathy with antenatal onset and early death. Recently, a less severe phenotype similar to our case has been reported. Our study confirms the existence of milder phenotypes linked to LMOD3 mutations and underlines that fingerprint bodies, though not specific, may be an early ultrastructural marker that could be linked, among others, to nemaline myopathy.

BACKGROUND: Symptomatic muscle hernias are not uncommon in the lower extremities and are a rare cause of chronic leg pain. They are most commonly seen in the tibialis anterior muscle, occurring through fascial defects, usually after trauma. There are about 200 cases of muscle hernias described in the literature. The diagnosis is challenging as most of the patients present with non-specific chronic leg pain. Dynamic muscle ultrasonography at rest and at stress is often used for the diagnosis.
METHODS: We describe a case of tibialis anterior muscle hernia presenting with persistent dull pain and swelling along the anterior aspect of the leg on straining the leg muscles. Dynamic ultrasonography was performed, which showed a defect in the fascial sheath of the muscle through which the tibialis anterior muscle herniated and produced a focal bulge along the anterior aspect of the leg. Based upon physical examination and dynamic ultrasonographic findings, a diagnosis of tibialis anterior muscle hernia was made.
CONCLUSIONS: Tibialis anterior muscle hernia is a rare diagnosis and should be included in the differential diagnosis in a patient with chronic leg pain and swelling. Dynamic ultrasound is crucial in confirming the diagnosis and should be done on straining the muscles of the affected limb.

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BACKGROUND: Amyloid myopathy is a rare manifestation of primary systemic amyloid light-chain (AL) amyloidosis, but it has not been reported to occur in secondary amyloid A (AA) amyloidosis.
METHODS: We describe a 46-year-old man with psoriasis vulgaris who presented with idiopathic upper and lower limb weakness and was eventually diagnosed with hypertrophic cardiomyopathy. Muscle biopsy findings were compatible with mild inflammatory myopathy. He died of cardiopulmonary arrest, and an autopsy was performed.
RESULTS: The autopsy revealed amyloid plaques immunopositive for AA (but not AL or transthyretin) in the perimysial, perivascular, and endomysial regions of the iliopsoas muscle. The final diagnosis was systemic AA amyloidosis with muscle amyloid angiopathy, possibly induced by psoriasis vulgaris.
CONCLUSIONS: This is an extremely rare autopsy case of myopathy in a patient with systemic AA amyloidosis. The reason for the unusually large amount of amyloid deposition in muscle blood vessel walls remains unclear.

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OBJECTIVE: This study investigates consequences of chronic neck pain on muscle function and the rehabilitating effects of contrasting interventions.
METHODS: Women with trapezius myalgia (MYA, n = 42) and healthy controls (CON, n = 20) participated in a case-control study. Subsequently MYA were randomized to 10 weeks of specific strength training (SST, n = 18), general fitness training (GFT, n = 16), or a reference group without physical training (REF, n = 8). Participants performed tests of 100 consecutive cycles of 2 s isometric maximal voluntary contractions (MVC) of shoulder elevation followed by 2 s relaxation at baseline and 10-week follow-up.
RESULTS: In the case-control study, peak force, rate of force development, and rate of force relaxation as well as EMG amplitude were lower in MYA than CON throughout all 100 MVC. Muscle fiber capillarization was not significantly different between MYA and CON. In the intervention study, SST improved all force parameters significantly more than the two other groups, to levels comparable to that of CON. This was seen along with muscle fiber hypertrophy and increased capillarization.
CONCLUSIONS: Women with trapezius myalgia have lower strength capacity during repetitive MVC of the trapezius muscle than healthy controls. High-intensity strength training effectively improves strength capacity during repetitive MVC of the painful trapezius muscle.