Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study.
Authors: Alfarih M, Syrris P, Arbustini E, Augusto JB, Hughes A, Lloyd G, Lopes LR, Moon JC, Mohiddin S, Captur G Abstract In a five-generation family carrying a novel frameshift LMNA variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities, supraventricular and ventricular arrythmias, dilated cardiomyopathy with non-infarct pattern midwall septal fibrosis, heart failure and thromboembolic complications. PMID: 31788659 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - December 5, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.
In conclusion, the majority of Serbian LGMD2A patients have the same mutation and similar phenotype. PMID: 31788660 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - December 5, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Current and emerging therapies in Becker muscular dystrophy (BMD).
Authors: Angelini C, Marozzo R, Pegoraro V Abstract Becker muscular dystrophy (BMD) has onset usually in childhood, frequently by 11 years. BMD can present in several ways such as waddling gait, exercise related cramps with or without myoglobinuria. Rarely cardiomyopathy might be the presenting feature. The evolution is variable. BMD is caused by dystrophin deficiency due to inframe deletions, mutations or duplications in dystrophin gene (Xp21.2) We review here the evolution and current therapy presenting a personal series of cases followed for over two decades, with multifactorial treatment regimen. Early treatmen...
Source: Acta Myologica - December 5, 2019 Category: Neurology Tags: Acta Myol Source Type: research

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease.
Authors: Machado R, Pinto-Basto J, Negrão L Abstract CMT disease caused by NEFL gene mutations is rare. The mode of inheritance can be dominant or recessive and nerve conduction velocities can be normal, reduced (demyelinating) or presenting intermediate values. Two Portuguese adult related members in two successive generations were affected by peripheral neuropathy, one with a chronic ataxic peripheral neuropathy and the other with a classical Charcot-Marie-Tooth phenotype. An axonal sensorimotor peripheral neuropathy was described at neurophysiology. A missense heterozygous mutation, c.794A> G (p.Tyr265...
Source: Acta Myologica - December 5, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Acute sensorimotor polyneuropathy as an early sign of polyarteritis nodosa. A case report.
We examined a patient aged 31 who had a sudden burning paraesthesia, pain and numbness in the lower legs together with an increased temperature of 39°C. Clinical examination showed asymmetrical sensory polyneuropathy more clearly seen in the lower legs and the left wrist, with high ESR (up to 44 mm/h), leukocytosis, slight anemia and proteinuria. CSF was normal. After three weeks the temperature suddenly increased again up to 39°C and severe flaccid distal tetraparesis was seen more clearly with foot drop in the left lower leg and dense oedema in the left wrist, purple cyanosis and haemorrhagic foci appeared on the...
Source: Acta Myologica - December 5, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results.
Authors: Palladino A, Papa AA, Morra S, Russo V, Ergoli M, Rago A, Orsini C, Nigro G, Politano L Abstract Cardiomyopathy associated with dystrophinopathies - Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-CM) and cardiomyopathy of Duchenne/Becker (DMD/BMD carriers - is an almost constant manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Dystrophinopathic cardiomyopathy is the result of the dystrophin protein deficiency at the myocardium level, parallel to that occurring at the skeletal muscle level....
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

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)
Source: Acta Myologica - July 18, 2019 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

Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III.
Authors: Francini-Pesenti F, Tresso S, Vitturi N Abstract Glycogen storage disease type III (GSDIII) management in adult patients includes a high-protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood. This regimen can prevent hypoglycaemia but does not seem to improve skeletal muscle and heart function. A 34 years-old patient with GSD IIIa with hypertrophic cardiomyopathy was then treated with a modified Atkins ketogenic diet. After 12 months of treatment ejection fraction raised from 30 to 45%, liver enzymes were reduced and CK plasma level dropped from 568 to 327 U/l. Phy...
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report.
In this study we report a rare variant (p.Arg148Trp, rs752485547) in LAMA2 gene causing a mild form of Merosin-deficient CMD in a Sudanese family. The family consisted of two patients diagnosed clinically with congenital muscular dystrophy since childhood and five healthy siblings born to consanguineous parents. Whole exome sequencing was performed for the two patients and a healthy sibling. A rare missense variant (p.Arg148Trp, rs752485547) in LAMA2 gene was discovered and verified using Sanger sequencing. The segregation pattern was consistent with autosomal recessive inheritance. The pathogenicity of this variant was pr...
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine.
We report a patient presenting severe elbow contractures and a rigid-spine since his early childhood without any evident muscle weakness, who was diagnosed with facioscapulohumeral muscular dystrophy later in life. This case is interesting since there has been no report, to date, of patients with a phenotype resembling facioscapulohumeral muscular dystrophy also in association with early and prominent elbow contractures and spinal rigidity, since childhood, resembling Emery-Dreifuss muscular dystrophy. Our case further confirmed the phenotypic variability often observed in carriers of D4Z4 reduce allele, and highlights the...
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.
Authors: D'Ambrosio P, Petillo R, Torella A, Papa AA, Palladino A, Orsini C, Ergoli M, Passamano L, Novelli A, Nigro V, Politano L Abstract Mutations in the LMNA gene are associated with a wide spectrum of disease phenotypes, ranging from neuromuscular, cardiac and metabolic disorders to premature aging syndromes. Skeletal muscle involvement may present with different phenotypes: limb-girdle muscular dystrophy type 1B or LMNA-related dystrophy; autosomal dominant Emery-Dreifuss muscular dystrophy; and a congenital form of muscular dystrophy, frequently associated with early onset of arrhythmias. Heart involvement m...
Source: Acta Myologica - July 18, 2019 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)
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Clinicopathologic features in a case of intermuscular myopericitoma of thigh.
We presented a 23-year-old patient with a history of a sciatic pain of the right leg. A careful physical examination discovered tumor-like mass in the posterior part of the thigh. Neurological finding showed a reduction of myotatic reflexes on the right leg with a weaker muscle strength on the right leg. The right leg musculature was slightly hypotrophic in the range of 2-3 cm comparing to left leg. Initially electrophysiological and radiological diagnostic with magnetic resonance imaging (MRI) of the lumbar spine, pelvis and thighs were normal. Magnetic resonance imaging of the right thigh discovered a slow growing 2.1 &t...
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

PROCEEDINGS OF THE XIX CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY: Bergamo, ItalyJune 05-08, 2019.
Authors: PMID: 31309183 [PubMed] (Source: Acta Myologica)
Source: Acta Myologica - July 18, 2019 Category: Neurology Tags: Acta Myol Source Type: research

The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence.
Authors: Iolascon G, Vitacca M, Carraro E, Chisari C, Fiore P, Messina S, Mongini TEG, Sansone VA, Toscano A, Siciliano G Abstract Late-onset Pompe disease (LOPD) is characterized by progressive muscle weakness, respiratory muscle dysfunction, and minor cardiac involvement. Although in LOPD, as in other neuromuscular diseases, controlled low impact sub-maximal aerobic exercise and functional ability exercise can improve general functioning and quality of life, as well as respiratory rehabilitation, the bulk of evidence on that is weak and guidelines are lacking. To date, there is no specific focus on rehabilitation...
Source: Acta Myologica - April 6, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Metabolic impairments in patients with myotonic dystrophy type 2.
Authors: Vujnic M, Peric S, Calic Z, Benovic N, Nisic T, Pesovic J, Savic-Pavicevic D, Rakocevic-Stojanovic V Abstract Objectives: metabolic syndrome (MetS) increases risk of cardiovascular diseases and diabetes mellitus type 2. Aim of this study was to investigate frequency and features of MetS in a large cohort of patients with DM2. Materials & methods: this cross-sectional study included 47 DM2 patients. Patients were matched with 94 healthy controls (HCs) for gender and age. MetS was diagnosed according to the new worldwide consensus criteria from 2009. Results: mean age of DM2 patients was 52 &plus...
Source: Acta Myologica - April 6, 2019 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

Novel desmoplakin mutations in familial Carvajal syndrome.
We report a patient with CS caused by two novel mutations in DSP gene, inherited from his parents, both asymptomatic. The same phenotype was present in his younger sister who showed skin abnormality and woolly hairs. The segregation analysis of the known loci in DSP gene performed by genetic testing, was able to established the trans position of the two mutations (c.6986T> C and c.7123G> C) in the patient and his sister. The first mutation has been inherited from the mother, the other one from the father. The resulting compound heterozygous mutation in the siblings, is likely the cause of the disease. PMID: 30944...
Source: Acta Myologica - April 6, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up.
We report the case of a 44 year old patient with Steinert disease who showed an early onset ventricular dysfunction refractory to optimal medical and cardiac resincronization therapy, and underwent to successful heart transplantation. At our knowledge, this is the second heart transplantation performed in a patient affected by Steinert disease after the one reported by Conraads et al in 2002. PMID: 30944906 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - April 6, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report.
We report a case of a still ambulant 27 year-old DMD symptomatic carrier with a stop-codon mutation in exon 53 (c.7792C> T; p.Gln2598Stop), who started the treatment with Ataluren at a dosage of 2,250 mg/die, reporting a prompt subjective improvement in muscle strength. Unfortunately two months after, the patient discontinued taking the drug for a traumatic femur fracture requiring surgical repair and prolonged rehabilitation. With the resumption of the drug intake in February 2018, the patient reported almost immediately an improvement in motor skills, including the possibility of recovering walking, first with support...
Source: Acta Myologica - April 6, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.
Discussion: The electrophysiological findings of p.Thr140Met are similar to those found in thyrotoxic PP caused by Kir2.6 mutations. Also, the homologous Thr140 residue is mutated in Kir2.6. This supports the idea that Kir2.2 p.Thr140Met conveys susceptibility to SPP and should be included in genetic screening. PMID: 30838349 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - March 7, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of italian patients with spinal-bulbar muscular atrophy.
Authors: Francini-Pesenti F, Querin G, Martini C, Mareso S, Sacerdoti D Abstract Spinal-bulbar muscular atrophy (SBMA), is an X-linked motor neuron disease caused by a CAG-repeat expansion in the first exon of the androgen receptor gene (AR) on chromosome X. In SBMA, non-neural clinical phenotype includes disorders of glucose and lipid metabolism. We investigated the prevalence of metabolic syndrome (MS), insulin resistance (IR) and non alcoholic fatty liver disease (NAFLD) in a group of SBMA patients. Forty-seven consecutive patients genetically diagnosed with SBMA underwent biochemical analyses. In 24 patients ab...
Source: Acta Myologica - March 7, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders. PMID: 30838351 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - March 7, 2019 Category: Neurology Tags: Acta Myol Source Type: research

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.
Authors: Bohlega SA, Alfawaz S, Abou-Al-Shaar H, Al-Hindi HN, Murad HN, Bohlega MS, Meyer BF, Monies D Abstract Autosomal dominant LGMD1D has been described in multiple families in Asia, Europe, and USA. However, to the best of our knowledge, no cases of LGMD1D have been reported among native Bedouin Saudi families. Fifty Saudi families with LGMD were analyzed and the causative underlying genes were studied utilizing genome wide linkage, homozygosity mapping, and neurological gene panel. We identified one family of a Bedouin origin with LGMD1D. Two patients had progressive proximal and distal weakness, dysphagia, a...
Source: Acta Myologica - March 7, 2019 Category: Neurology Tags: Acta Myol Source Type: research

Myotonic dystrophy type 1 and pulmonary embolism: successful thrombus resolution with dabigatran etexilate therapy.
We describe the case of pulmonary embolism in a DM1 patient, in which pulmonary thrombus was completely resolved with oral dabigatran etexilate therapy. PMID: 30838353 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - March 7, 2019 Category: Neurology Tags: Acta Myol Source Type: research

SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family.
We present the case of a female patient, of 37-years-old, with distal muscle weakness and atrophy beginning in childhood and slowly progressive in the first two decades of life. Neurological examination revealed a symmetrical severe muscle wasting and weakness in distal lower and upper limbs, with claw hands, footdrop with equinovarus deformity and hammer toes, generalized areflexia and normal sensory examination. The electrodiagnostic study revealed a pure chronic motor peripheral nerve involvement without signs of demyelination. The molecular study found the deletion c.561_576del on exon 4 and a deletion of all exon 4, i...
Source: Acta Myologica - August 7, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatment.
Authors: Rago A, Antonio Papa A, Galante D, Cassese A, Golino P Abstract A patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations is reported, in which the application of an external loop recorder (ELR) was useful for the diagnosis and post radiofrequency ablation follow-up of typical atrial flutter. PMID: 30079399 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - August 7, 2018 Category: Neurology Tags: Acta Myol Source Type: research

PROCEEDINGS OF THE XVIII CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY: Genoa, Italy June 6-9, 2018.
Authors: PMID: 30079400 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - August 7, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy.
Authors: Ribeiro J, Rebelo O, Fernández-Marmiesse A, Negrão L Abstract A group of heterogeneous muscle diseases are caused by dystrophin gene (DMD) mutations. We hereby present a male patient with a diagnosis of symptomatic dilated cardiomyopathy at 44 years-old who developed, soon after, weakness of distal right upper limb. At the age of 58, neurological examination revealed severe atrophy of right thenar muscles, flexion contractures on the right elbow, wrist and fingers, bilateral calf hypertrophy, myotatic areflexia in the upper limbs and hyporeflexia in the lower limbs. Manual muscle examination ...
Source: Acta Myologica - July 31, 2018 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 mutati...
Source: Acta Myologica - July 31, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Proceedings of the XIII Congress of mediterranean society of Myology: Avanos, Turkey June 27-29, 2018.
Authors: PMID: 30057998 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - July 31, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.
Authors: Vittonatto E, Boschi S, CHIADò-Piat L, Ponzalino V, Bortolani S, Brusa C, Rainero I, Ricci F, Vercelli L, Mongini T Abstract Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultrastructural analysis is an important confirmatory tool, but it is not widely available. Immunohistochemical stainings for p62, LAMP2 and LC3 are commonly available as tissutal marker for autophagy. We compared the immunohistochemical patterns...
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Study of anti-M üllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results.
Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results. Acta Myol. 2017 Dec;36(4):199-202 Authors: Ergoli M, Venditti M, Dotolo R, Picillo E, Minucci S, Politano L Abstract Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive testicular atrophy occurs in about 80% in the affected males leading to Leydig cell hyperproliferati...
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.
Authors: Papadimas GK, Paraskevas GP, Zambelis T, Karagiaouris C, Bourbouli M, Bougea A, Walter MC, Schumacher NU, Krause S, Kapaki E Abstract VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while musc...
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.
Authors: Sivitskaya LN, Danilenko NG, Vaikhanskaya TG, Kurushka TV, Davydenko OG Abstract Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA mutations are presented. Three heterozygous missense mutations were identified in unrelated patients - p.W520R (c.1558T> C), p.T528R (с.1583С> G) and p.R190P (c.569G> C). We consider these variants as pathogenic, leading to isolated DCM with conduction defects or syndromic DCM for...
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report.
We report the case of a patient with Steinert disease showing an early onset ventricular dysfunction due to chronic right ventricular apical pacing, in which an epicardial left ventricular lead implantation was performed following the failure of the percutaneous attempt. As no relief in symptoms of heart failure, nor an improvement of left ventricular ejection fraction and reverse remodelling was observed six months later, the patient was addressed to the heart transplantation. PMID: 29770365 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a patient with Myotonic Dystrophy type 1 and atrial fibrillation.
We report the first case of complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a myotonic dystrophy type I patient with atrial fibrillation scheduled for transesophageal echocardiogram-guided direct current cardioversion. PMID: 29770366 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
Discussion: Residue G1306 Neonatal laryngospasm and unusual distribution of myotonia, muscle hypertrophy, and weakness encourage direct search for the G1306E mutation, a hotspot for de-novo mutations. Successful therapy with the sodium channel blocker flecainide is due to stabilization of the inactivated state and special effectiveness for enlarged window currents. Our G1306E collection is the first genetically clarified case series from newborn period to adulthood and therefore helpful for counselling. PMID: 29774303 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Arrhythmogenic right ventricular cardiomyopathy in Boxer dogs: the diagnosis as a link to the human disease.
Conclusion: We suggest the diagnosis of ARVC in Boxer dogs requires two out of the three following criteria: presence of ≥ 100 VPCs, presence of couplets or R-on-T-phenomenon on a 24 h-ECG. This results in a uniform phenotype similar to that described in human ACM and may result in the adoption of the term ACM for this analogous condition in Boxer dogs. PMID: 29774304 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Multi-slice MRI reveals heterogeneity in disease distribution along the length of muscle in Duchenne muscular dystrophy.
Conclusion: A multi-slice ordinal MRI grading scale revealed that muscles are not uniformly affected, with more advanced disease visible near the tendons in a primarily ambulatory population with DMD. A geographically comprehensive evaluation of the heterogeneously affected muscle in boys with DMD may more accurately assess disease involvement. PMID: 29774305 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.
In this study, we performed a mutational screening in an Apulian cohort of LHON patients and we found that 41 out of 54 subjects harbored the m.11778G>A mutation, and 13 harbored the m.3460G>A mutation. Whole mtDNA sequencing was performed in three affected subjects belonging to three unrelated m.11778G>A pedigrees to evaluate the putative synergistic role of additional mtDNA mutations in determining the phenotype. Our study suggests to include haplogroup T as a possible genetic background influencing LHON penetrance and to consider the increase of mtDNA copy number as a protective factor from vision loss regardle...
Source: Acta Myologica - May 19, 2018 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

Errata.
ERRATA. Acta Myol. 2017 Sep;36(3):182 Authors: Abstract [This corrects the article on p. 19-24 in vol. 36.]. PMID: 29774308 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Errata.
ERRATA. Acta Myol. 2017 Sep;36(3):183 Authors: Abstract [This corrects the article on p. 41-45 in vol. 36.]. PMID: 29774309 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - May 19, 2018 Category: Neurology Tags: Acta Myol Source Type: research

Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs.
Authors: Lorenza M, Marianna S, Melania P, Alessandra S, Antonella Z, Federica C, Erika B, Gianluca V, Sonia M, Maria S, Maria Elena L, Roberta S, Giulia C, Maria C, Angela B, Maria Chiara M, Alessandra G, Claudio S, Luca B, Guja A, Giulia R, Maria Grazia D, Giuseppe V, Marika P, Adele D, Umberto B, Corrado A, Roberta B, Luisa P Abstract This paper describes the psycho-social treatments received by 502 patients with MDs and their relatives, and the costs for care sustained by the families in the previous six month period. Data were collected by the MD-Care Schedule (MD-CS) and the Family Problems Questionnaire (FPQ...
Source: Acta Myologica - August 9, 2017 Category: Neurology Tags: Acta Myol Source Type: research

PROCEEDINGS OF THE XVII CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY Siracusa, Italy May 31 - June 3, 2017.
Authors: PMID: 28781516 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - August 9, 2017 Category: Neurology Tags: Acta Myol Source Type: research

Editorial.
EDITORIAL. Acta Myol. 2017 Mar;36(1):1 Authors: Nigro G PMID: 28690387 [PubMed - in process] (Source: Acta Myologica)
Source: Acta Myologica - July 12, 2017 Category: Neurology Tags: Acta Myol Source Type: research

(23)Na MRI and myometry to compare eplerenone vs. glucocorticoid treatment in Duchenne dystrophy.
Authors: A Glemser P, Jaeger H, M Nagel A, E Ziegler A, Simons D, Schlemmer HP, Lehmann-Horn F, Jurkat-Rott K, Weber MA Abstract In this pilot study we tested whether a low dose application of a mild diuretic substance such as eplerenone is beneficial in early stages of Duchenne muscular dystrophy using (23)Na und (1)H imaging, myometry, and clinical testing versus the glucocorticoid gold standard. Two 7-years old patients with DMD were examined on a 3T MRI system. (1)H MRI and (23)Na density-adapted 3-dimensional radial MRI sequences were performed both before and 1, 3 and 6 months after therapy with eplerenone re...
Source: Acta Myologica - July 12, 2017 Category: Neurology Tags: Acta Myol Source Type: research

Personality traits in patients with myotonic dystrophy type 2.
The objective is to analyze personality patterns in myotonic dystrophy type 2 (DM2) compared to DM1 control group. The study comprised 27 consecutive genetically confirmed DM2 patients and control group of 44 DM1 patients. Personality traits were assessed with the Millon Multiaxial Clinical Inventory III (MMCI III). In DM2 group there were no scale with pathological scores, although compulsive and paranoid traits were the most prominent. DM2 patients had lower scores compared to DM1 patients in almost all scales. Pathological scores on clinical symptom scales were not observed, although anxiety scale almost approached this...
Source: Acta Myologica - July 12, 2017 Category: Neurology Tags: Acta Myol Source Type: research