Late-onset facioscapulohumeral muscular dystrophy type 1 in previously undiagnosed families: Presenting clinical features in an often-misdiagnosed disorder.

Introduction/aims: In our experience, patients with late-onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) are frequently misdiagnosed, some for many years. The aim of this report is to document this clinical experience including the presenting symptoms and misdiagnoses and to discuss the challenges in diagnosing patients with late-onset FSHD1.

Methods: We performed a retrospective medical record review and recorded clinical data on patients with a genetically confirmed diagnosis of FSHD1, who began to have symptoms at 50 years of age or older, and either had no family history of FSHD1 or had a history of an undiagnosed weakness in a family member.

Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single-site study.

Introduction/aims: Advanced genetic testing including next-generation sequencing (AGT/NGS) has facilitated DNA testing in the clinical setting and greatly expanded new gene discovery for the Charcot-Marie-Tooth neuropathies and other hereditary neuropathies (CMT/HN). Herein, we report AGT/NGS results, clinical findings, and diagnostic yield in a cohort of CMT/HN patients evaluated at our neuropathy care center.

Methods: We reviewed the medical records of all patients with suspected CMT/HN who underwent AGT/NGS at the Hospital for Special Care from January 2017 through January 2020.

Myotonic Muscular Dystrophy Type 2 in CT, USA: A Single-Center Experience With 50 Patients.

Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder due to a (CCTG)n repeat expansion in intron 1 of the CNBP gene. In this article, we report the clinicopathologic findings in 50 patients seen at a single site over a 27 year period. DM2 was the fifth most common type of muscular dystrophy seen at our center with a 5-fold lower frequency as compared to DM1.

Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.

Laing distal myopathy (LDM) is an autosomal dominant disorder caused by mutations in the slow skeletal muscle fiber myosin heavy chain (MYH7) gene on chromosome 14q11.2. The classic LDM phenotype-including early-onset, initial involvement of foot dorsiflexors and great toe extensors, followed by weakness of neck flexors and finger extensors-is well documented.

Sensitivity and clinical utility of the anti-cytosolic 5'-nucleotidase 1A (cN1A) antibody test in sporadic inclusion body myositis: Report of 40 patients from a single neuromuscular center.

Sporadic inclusion body myositis (IBM) is the most common acquired myopathy affecting patients over age 50. The discovery of an autoantibody directed against a 43-44 kD protein (anti-cytosolic-5'-nucleotidase 1A or anti-cN1A) has provided support for the hypothesis of an immune-mediated pathogenesis. Previous studies have reported variable test sensitivity and specificity, and inconsistent results on the predictive value.

Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers.

We report the case of a 58-year-old woman with a progressive and seemingly sporadic myopathy who, later through whole exome sequencing, was diagnosed as a manifesting carrier of a myotubularin 1 gene mutation (c.342_342 + 4delAGTAA). As the case was a diagnostic challenge for 7 years, we thought it would be helpful to report the patient and review the other 25 cases thus far described.

Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.

Introduction: The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. These disorders of fatty acid metabolism and intracellular triglyceride degradation cause marked fat deposition and damage to muscle cells.

Methods: We describe a rapidly progressive myopathy in a previously healthy 33-year-old woman.

Brachial plexopathy due to malignant peripheral nerve sheath tumor in neurofibromatosis type 1: case report and subject review.

Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome affecting approximately 1 in 4,000 persons. It is an autosomal-dominant disorder with half of the cases resulting from spontaneous mutations. This genetic defect leads to the formation of benign tumors or neurofibromas of the peripheral nervous system.

The Clinical Features of Facioscapulohumeral Muscular Dystrophy Associated With Borderline (>/=35 kb) 4q35 EcoRI Fragments.

Objectives: : The objectives of this study were to characterize the clinical features of facioscapulohumeral muscular dystrophy (FSHD) in patients with borderline (>/=35 kb) EcoRI fragments and to compare patients with borderline EcoRI fragments with FSHD patients harboring fragments of <35 kb.

Background: : Most patients with FSHD harbor 4q35 EcoRI fragments of less than 35 kb. The clinical findings in patients with borderline fragments are not well known.

Apparent conduction block in patients with ulnar neuropathy at the elbow and proximal Martin-Gruber anastomosis.

A Martin-Gruber anastomosis (MGA) commonly results in an abnormal decline in amplitude across the forearm segment when ulnar motor nerve conduction studies are performed. A recent report described a proximal MGA resembling partial conduction block in a patient with ulnar neuropathy at the elbow (UNE). As a result, we screened patients with similar findings.

Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity.

Alpha-glucosidase deficiency is a rare cause of muscle disease in adults. The diagnosis relies on recognition of the salient clinical features and determination of significantly reduced alpha-glucosidase (GAA) activity. Lymphocytes are the usual tissue for diagnostic enzymology; discrepant results from analyses of different tissues are unusual.

Multiple recurrences of diabetic muscle infarction: case report and literature review.

This is the report a case of diabetic muscle infarction (DMI) associated with multiple recurrences and a review of the literature on DMI from the first description in 1965 to the present. Specifically the review of the clinical, laboratory, and muscle histopathologic features of 86 reported cases of DMI.Patients with DMI usually present with acute or subacute focal lower extremity muscle pain or swelling.

Benign calf amyotrophy: clinicopathologic study of 8 patients.

Background: The benign focal amyotrophy disorders have been described since 1959 for the upper limbs and since 1981 for the lower limbs. The clinicopathologic features have pointed to a restricted and self-limiting form of motor neuron disease.

Objective: To describe the clinical, electromyographic, and muscle histopathologic features in 8 patients with benign calf amyotrophy.