Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.

Alpha-methylacyl-CoA-racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood. The purpose of this report is to define clinical variations and follow-up data in AMACR deficiency emphasizing treatment with a review of cases reported in the literature. Here, four patients, from two families, diagnosed with AMACR deficiency and showing phenotypic heterogeneity are presented.

Thymoma patients with or without myasthenia gravis have increased Th17 cells, IL-17 production and ICOS expression.

Thymoma associated myasthenia gravis (TAMG) is a small disease subgroup with autoantibodies against the acetylcholine receptor. The aim of this study was to assess the role of T helper (Th) cells in TAMG compared to thymoma patients without MG (TOMA) and healthy controls (HC). Peripheral blood cells were used for intracellular cytokine measurements and phenotyping of CD4 Th cells.

Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.

This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis.

Correlations between radiographic spinopelvic parameters and health-related quality of life: A prospective evaluation of 37 patients with facioscapulohumeral muscular dystrophy.

Objective: The purpose of this study was to evaluate the relationship between spinopelvic parameters and health-related quality of life.

Methods: Patients with Facioscapulohumeral muscular dystrophy (FSHD) were asked to volunteer to participate in this study from April 2018 to December 2019. Patient data, including age, sex, body mass index (BMI), and duration of the diagnosis of FSHD were obtained.

Familial Amyloid Polyneuropathy.

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening disease caused by the accumulation of amyloidogenic transthyretin (TTR) protein in tissues. Mutations in TTR gene destabilize TTR protein to misfold from its native tetramer form to amyloidogenic monomer form. In endemic countries, TTR-FAP presents with length-dependent small fiber neuropathy, however in non-endemic countries clinical features can be highly variable.

Pulmonary functions and sleep-related breathing disorders in lipid storage disease.

Purpose: Pulmonary function abnormalities and sleep-related breathing disorders (SRBD) are frequent in subjects with several neuromuscular diseases but there is no data about lipid storage diseases (LSD). Therefore, we aimed to evaluate pulmonary functions and SRBD in adults with LSD.

Methods: Pulmonary functions (forced expiratory volume (FEV), forced vital capacity (FVC), supine FVC, upright-supine FVC% change, maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), peak cough flow (PCF)), arterial blood gases, and polysomnographic data of all subjects were evaluated.

Turkish version of the Motor Function Measure Scale (MFM-32) forneuromuscular diseases: a cross-cultural adaptation, reliability, and validity study.

Background/aim: The Motor Function Measure (MFM-32) is a classification system for ambulant and nonambulant patients with neuromuscular diseases (NMDs). We aimed to translate it into Turkish, culturally adapt it, and test its reliability and validity for Turkish patients with NMDs.Materials and methods: The translation of the 32 items assessing three functional areas: standing position and transfers (D1: 13), axial/proximal (D2: 12), and distal (D3: 7) motor functions was performed according to the established guidelines for cross-cultural adaptation.

Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic accumulation of amyloid fibrils that result in organ dysfunction. TTR-associated FAP is a progressive and fatal disease, if left untreated, and should be considered in the differential diagnosis of any person presenting with a progressive polyneuropathy, particularly with accompanying autonomic involvement.