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Source: Acta Myologica
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Total 606 results found since Jan 2013.
Novel TRIM32 mutation in sarcotubular myopathy.
This report further confirms that STM and LGMD2H represent the same disorder and suggests to consider TRIM32 mutations in the genetic diagnosis of Sarcotubular Myopathy and Myofibrillar Myopathy.
PMID: 31309175 [PubMed - in process]
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research
On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy.
We report a case of a 50-year-old man who presented with severe heart failure as the initial manifestation of nemaline myopathy. Soon after he developed acute restrictive respiratory failure due to the diaphragmatic paralysis. The diagnosis of "nemaline myopathy" was obtained on muscle biopsy performed one year later. After starting appropriate cardiological treatment and non-invasive ventilation, his cardiac and pulmonary functions improved substantially, remaining stable for over the 10 years since diagnosis. In the last two years the patient had a progressive deterioration of respiratory function, enabling him to attend...
Source: Acta Myologica - November 25, 2014 Category: Neurology Tags: Acta Myol Source Type: research
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.
We report a woman with exertion-induced myalgia and weakness in the hip girdle manifesting at the age of 40. Creatine kinase (CK) was increased 20-fold. Histologically the dominating feature was necrotizing myopathy, but long-term immunosuppressive therapy did not change CK level or myopathic symptoms. Molecular genetic investigation led to the finding of the homozygous ANOS c.191dupA mutation. This is a report of a muscular dystrophy due to ANO5 mutation presenting histologically as necrotizing myopathy. For this reason our finding extends the histological spectrum of myopathies due to ANO5 mutations as well as the possib...
Source: Acta Myologica - November 25, 2014 Category: Neurology Tags: Acta Myol Source Type: research
An unusual presentation of scleromyxedema as inflammatory myopathy.
Authors: Vysakha KV, Poyuran R, Nair SS, Nair M
Abstract
Scleromyxedema is a rare cutaneous mucinosis with frequent extracutaneous manifestations. Myopathy in scleromyxedema is a poorly recognized syndrome among neurologists and can mimic idiopathic and connective tissue disease-associated inflammatory myopathy. Diagnosis is suspected by the characterization of the skin lesions and clinched by skin and muscle biopsies. Here, we report a patient with scleromyxedema and myopathy with the characteristic histopathological feature of mucin deposition in skin biopsy. Her muscle biopsy showed a picture consistent with scl...
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research
Undiagnosed myopathy before surgery and safe anaesthesia table.
Authors: Trevisan CP, Accorsi A, Morandi LO, Mongini T, Savoia G, Gravino E, Angelini C, Tegazzin V
Abstract
Patients with muscle pathology are a challenge for anaesthesiologists because of possible life-threatening general anaesthesia complications. A review of the current medical literature on the issue clearly indicates that increasing awareness by anaesthesiologists in recent years has led to a reduction in the occurrence of adverse events in patients with diagnostically well-defined muscle disease. On the other hand, the current emerging aspect is that the great majority of complications concern subjects with ...
Source: Acta Myologica - November 25, 2014 Category: Neurology Tags: Acta Myol Source Type: research
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.
Authors: Mejaddam AY, Nennesmo I, Sejersen T
Abstract
Centronuclear myopathy (CNM) is a rare hereditary congenital myopathy characterized by muscular hypotonia and abnormal centralization of nuclei in muscle fibers. The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. Despite recently identified genetic loci in the AR form, genotype-phenotype correlations are poorly established. Our index case is a 17 year old boy with recessive CNM causing loss of ambulation at 13 years of age and requiring ventilatory assistance nightly. Recent genetic testing reve...
Source: Acta Myologica - November 25, 2014 Category: Neurology Tags: Acta Myol Source Type: research
GNE myopathy: a personal trip from bedside observation to therapeutic trials.
Authors: Argov Z
Abstract
The trip is not over yet as definite therapy for GNE myopathy is not yet available. Also the exact mechanisms by which GNE defects lead to isolated muscle disease in humans are not fully recognized. But in the Gaetano Conte lecture of 2013 I have tried to describe how much a progress was made in several research laboratories and clinical institutes in the investigation of this unique myopathy.
PMID: 25709382 [PubMed - in process]
Source: Acta Myologica - February 26, 2015 Category: Neurology Tags: Acta Myol Source Type: research
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.
Authors: Wunderlich G, Brunn A, Daimagüler HS, Bozoglu T, Fink GR, Lehmann HC, Weis J, Cirak S
Abstract
Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy resequencing methodology in the diagnostic regime for muscular dystrophy cases. Here we report a 54-year-old female with a rare histological myopathy presentation of co-occurring cores and rods. The patient reported early childhood onset weakness. Muscle-MRI showed mainly proximal muscle involvement. We identified two compound heterozygous non-sense mutations ...
Source: Acta Myologica - July 31, 2018 Category: Neurology Tags: Acta Myol Source Type: research
Immune-mediated necrotizing myopathy due to statins exposure.
Authors: Villa L, Lerario A, Calloni S, Peverelli L, Matinato C, DE Liso F, Ceriotti F, Tironi R, Sciacco M, Moggio M, Triulzi F, Cinnante C
Abstract
Statin-induced necrotizing autoimmune myopathy (IMNM) is an autoimmune disorder induced by anti-3-hydroxy-3-methylglutaryl-coenzyme-A reductase (anti-HMGCR) antibodies. We performed a retrospective clinical, histological, and radiological evaluation of 5 patients with a 3-year therapeutic follow-up. All patients used statins and then experienced proximal weakness that persisted after drug cessation. Muscle biopsies revealed a primary necrotizing myopathy without infla...
Source: Acta Myologica - April 6, 2019 Category: Neurology Tags: Acta Myol Source Type: research
Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.
Authors: Broccolini A, Gidaro T, Morosetti R, Sancricca C, Mirabella M
Abstract
The hereditary inclusion-body myopathies encompass several syndromes with autosomal recessive or dominant inheritance. Despite a different clinical presentation they all have a progressive course leading to severe disability and share similar pathologic findings at the muscle biopsy. Quadriceps-sparing autosomal recessive hereditary inclusion-body myopathy (h-IBM) is the commonest form and is tied to mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) that codes for a rate-limiting enzyme in the sialic ...
Source: Acta Myologica - November 25, 2014 Category: Neurology Tags: Acta Myol Source Type: research
HIV-related neuromuscular diseases: nemaline myopathy, amyotrophic lateral sclerosis and bibrachial amyotrophic diplegia.
Authors: Rowland LP
Abstract
The human immunodeficiency virus (HIV) causes diverse disorders of the brain, spinal cord and peripheral nerves. Rarely, polymyositis and myoglobinuria are seen. Two other neuromuscular syndromes in people with HIV antibodies are nemaline myopathy and bibrachial amyotrophic diplegia, a form of motor neuron disease. The associations between these diseases and the possibility that HIV infection could be a risk factor for either amyotrophic lateral sclerosis (ALS) itself or other motor neuron diseases are investigated.
PMID: 21842590 [PubMed - indexed for MEDLINE]
Source: Acta Myologica - November 25, 2014 Category: Neurology Tags: Acta Myol Source Type: research
Bethlem myopathy in a Portuguese patient - case report.
We present a male patient of 49 years old, with symptoms of muscle weakness beginning in childhood and of very slowly progression. At the age of 42, the neurological examination revealed proximal lower limb muscle weakness and contractures of fingers flexors muscles, positive Gowers manoeuvre and a waddling gait. Serum creatine kinase (CK) values were slightly elevated, electromyographic study revealed myopathic changes and muscle MRI of the lower limbs showed a specific pattern of muscle involvement, with peripheral fat infiltration in vastus lateralis and intermedius and anterocentral infiltration in rectus femoris. Resp...
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research
Subacute inflammatory myopathy associated with papillary cancer of the thyroid gland.
We present a case of a female patientdiagnosed withinflammatory myopathy and apapillary cancer of the thyroid gland, with a remarkable clinical improvement after thyroid cancer surgery and radioactive iodine treatment, supporting a correlation between the two conditions.
PMID: 31309181 [PubMed - in process]
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research
Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene.
We present a male Portuguese patient with the classical phenotype of Laing early-onset distal myopathy (MPD1) beginning at 6 years of age, very slowly progressive, and with a mild to moderate impact on daily life by the age of 56. Muscle biopsy showed a myopathic pattern with hyaline bodies and cores. The NGS panel for structural myopathies identified a novel missense heterozygous variant, c.T4652C (p.Leu1551Pro), in the exon 34 of the MYH7 gene.
PMID: 32607476 [PubMed - in process]
Source: Acta Myologica - July 3, 2020 Category: Neurology Tags: Acta Myol Source Type: research
