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Muscular dystrophy and arthritis
Published in Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize, Developmental and Adapted Physical Education, 2019
Michael Horvat, Ronald V. Croce, Caterina Pesce, Ashley Fallaize
Distal MD or distal myopathy are six muscle diseases that affect the distal muscles or those farthest away from the shoulders, hips, hands, lower legs, or feet (NINDS, 2013). Distal dystrophies involve fewer muscles, progress at a slower rate, and are less severe. Children have difficulty with maintaining stability and with functional tasks such as walking and climbing stairs. Pulmonary and cardiac complications are also evident, and onset is usually between 40 to 60 years of age, although the autosomal recessive form may be evident at 1 year to young adulthood (NINDS, 2013).
Prenatal Diagnosis of Isolated Right Ventricular Non-Compaction Cardiomyopathy with an MYH7 Likely Pathogenic Variant
Published in Fetal and Pediatric Pathology, 2023
Weiming Yu, Mary Ann Thomas, Lindsay Mills, James R. Wright
MYH7 (myosin heavy chain 7) is the most commonly associated gene in NVM [10]. The gene encodes β myosin heavy chain protein, which is expressed predominantly in normal human ventricle, and also expressed in type I skeletal muscle fibers. More than 200 mutations have been described in MYH7. Mutations are distributed throughout the gene but are predominantly clustered in the head region [11]. Pathogenic variants of MYH7 gene are considerably heterogeneous, different variants within the same sarcomere gene can result in both overlapping and divergent clinical manifestations. MYH7 mutations are associated with 13%-20% of cases of LVNC, 16% of cases of hypertrophic cardiomyopathy, 4%-5% cases of dilated cardiomyopathy, and also include myosin storage myopathy and Laing early-onset distal myopathy [11,17].
A review of surgical management of progressive myogenic ptosis
Published in Orbit, 2023
Royce B. Park, Sruti S. Akella, Vinay K. Aakalu
Myogenic ptosis encompasses a family of myopathies, dystrophies, and syndromes that are known to particularly affect the extraocular muscles, among other muscles of the face and body. These disease entities are relatively rare and include mitochondrial myopathies such as chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS), oculopharyngeal muscular dystrophy (OPMD), oculopharyngeal distal myopathy (ODM), and myotonic dystrophy (MD).1 Surgical correction of myopathic ptosis in affected individuals is typically reserved for symptomatic cases where the upper lid obstructs the visual axis.2 Repair is often challenging, as myogenic ptosis not only affects the levator, but also the other extraocular, orbicularis, and in some cases, the frontalis muscles.3 Additionally, many patients have pre-existing dry eye due to a poor blink reflex and tear secretion, necessitating caution to avoid postoperative corneal complications.4 Several of these pathologies are progressive, with worsening ptosis or an increasing risk of recurrence over time after repair.4 Given this complexity, several studies in the literature have detailed their own surgical experiences, techniques, and outcomes. However, to our knowledge, there has been no recent comprehensive review of the surgical outcomes of progressive myogenic ptosis repair. In this report, the authors review literature focusing on the results of both classic and innovative repair techniques in different types of myogenic ptosis.
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021
Sara Llamas-Velasco, Ana Arteche-López, Antonio Méndez-Guerrero, Verónica Puertas Martín, Juan Francisco Quesada Espinosa, Jose Miguel Lezana Rosales, Marta González-Sánchez, Victor Antonio Blanco-Palmero, Carmen Palma Milla, Alejandro Herrero-San Martín, Daniel Borrego-Hernández, Alberto García-Redondo, David Andrés Pérez-Martínez, Alberto Villarejo-Galende
Pathogenic variants of the SQSTM1 gene (*601530) were first associated with autosomal dominant-Paget disease of bone 3 (PDB, MIM# 167250) (10). In 2011, Fecto et al. reported the first SQSTM1 mutation in familial amyotrophic lateral sclerosis (ALS) (11), and a year later, the first cases of FTD were described (12). The neurological phenotype spectrum was expanded when biallelic variants in the SQSTM1 gene were reported in a family with distal myopathy (13) and a family with childhood/adolescence-onset ataxia and cognitive decline (14). The SQSTM1 gene encodes p62, a protein involved in several key cellular activities, such as autophagy, apoptosis, nuclear factor kappa (NF-κB) signaling, and transcription regulation (12,15). The cause of its clinical heterogeneity remains unclear.