Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

Central Core Disease (CCD) is a genetic neuromuscular disorder characterized by the presence of cores in muscle biopsy. The inheritance has been described as predominantly autosomal dominant (AD), and the disease may present as severe neonatal or mild adult forms. Here we report clinical and molecular data on a large cohort of Brazilian CCD patients, including a retrospective clinical analysis and molecular screening for variants using Next-Generation Sequencing (NGS).

Limb Length Discrepancy on an 11-Month-Old Boy with Osteoid Osteoma.

Osteoid osteoma is a benign bone tumor that frequently occurs between the ages of 10 and 25 years old; in about 80% of the patients, it is associated with intense pain. The present article describes the case of an 11-month-old infant with claudication, right lower limb shortening, and painless right leg volume increase. Image studies demonstrated an osteolytic lesion with small ossifications within, involved by cortical thickening of the right tibial diaphysis.

The relative frequency of common neuromuscular diagnoses in a reference center.

Unlabelled: The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests.

Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center.

Phenotypic Variability of Dystrophinopathy Symptomatic Female Carriers.

Background: Dystrophinopathies are X-linked muscular dystrophies characterized by pathogenic mutations in the dystrophin gene. Symptomatic dystrophinopathy female carriers may present with limb-girdle weakness. The diagnosis may be challenging in the absence of affected male relatives.

Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.

Background: Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and this is the first description associated with early tibialis anterior sparing on muscle image and myopathic-neurogenic motor unit potentials.

Case Presentation: Here we report a 31 years old caucasian male patient with progressive gait disturbance, and severe lower limb proximal weakness since the age of 20 years, associated with subtle facial muscle weakness.

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil.