Machine learning-driven Heckmatt grading in facioscapulohumeral muscular dystrophy: A novel pathway for musculoskeletal ultrasound analysis.

Objective: This study introduces a machine learning approach to automate muscle ultrasound analysis, aiming to improve objectivity and efficiency in segmentation, classification, and Heckmatt grading.

Methods: We analyzed a dataset of 25,005 B-mode images from 290 participants (110 FSHD patients) acquired using a single Esaote ultrasound scanner with a standardized protocol. Manual segmentation and Heckmatt grading by experienced observers served as ground truth.

Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations.

Clinical trial readiness is an important topic in the field of facioscapulohumeral muscular dystrophy (FSHD). As FSHD is a slowly progressive and clinically heterogeneous disease, imaging biomarkers have been proposed to complement clinical outcome measures. Muscle magnetic resonance imaging (MRI), ultrasound and dual energy X-ray absorptiometry (DEXA) have been used to measure disease severity, activity and progression.

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

Background: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy (LAMA2-MD) has a similar clinical phenotype, which ranges from severe, early-onset congenital muscular dystrophy type 1A (MDC1A) to milder forms presenting as childhood- or adult-onset limb-girdle type muscular dystrophy. The first 1.

Severe vascular complications after derotational osteotomy of the tibia salvaged with free functional latissimus dorsi muscle transfer. A case report.

We present a case study of a 26-year-old male who sustained severe vascular and neurogenic injury during derotational osteotomy of the tibia. Directly postoperatively he complained of a drop foot, but 3 days later presented with an ischemic compartment syndrome of the anterior and lateral compartments. After debridement the osteotomy and metalware were exposed and the patient had a drop foot.

The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound.

Introduction/aims: One of the most distinct clinical features of facioscapulohumeral muscular dystrophy (FSHD) is facial weakness. It leads to diminished facial expression and functional impairments. Despite its clinical relevance, little else is known about orofacial muscle involvement.

Improving Heckmatt muscle ultrasound grading scale through Rasch analysis.

The 4-point Heckmatt grading scale can easily be used to analyze muscle ultrasound images. The scale is used in an expanding set of muscles and neuromuscular disorders. This prompted the need for evaluation of the measurement properties of the scale in its current form.

Muscle ultrasound in myopathies.

Purpose Of Review: This review highlights recent developments in the field of muscle ultrasound (MUS) for the diagnosis and follow up of muscle disorders.

Recent Findings: The diagnostic screening capacity of quantitative grayscale analysis is still sufficient to assess children suspected of a neuromuscular disorder. A combination of visual and quantitative assessment is advised for optimal interpretation.

Quantitative ultrasound of submental and masticatory muscles in children with cerebral palsy.

Purpose: Quantitative muscle ultrasound (QMUS) is potentially valuable as a diagnostic tool in central neurological disorders, as it provides information about changes in muscle architecture. This study aimed to investigate whether ultrasound images of the submental and masticatory muscles in children with spastic cerebral palsy (CP) differ from those obtained in a reference group, and whether observed ultrasound abnormalities differ between subgroups of children with different Eating and Drinking Ability Classification System (EDACS) levels to support its construct validity.

Methods: A prospective cohort study was conducted in 25 children with spastic CP aged 3-18 years.

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Noonan syndrome (NS) is an autosomal dominant condition characterized by facial dysmorphism, congenital heart disease, development delay, growth retardation and lymphatic disease. It is caused by germline pathogenic variants in genes encoding proteins in the Ras/mitogen-activated protein kinase signaling pathway. Nerve enlargement is not generally considered as a feature of NS, although some cases have been reported.

Carpal tunnel syndrome.

Carpal tunnel syndrome (CTS) is the most common nerve entrapment disorder worldwide. The epidemiology and risk factors, including family burden, for developing CTS are multi-factorial. Despite much research, its intricate pathophysiological mechanism(s) are not fully understood.

A prospective case series to evaluate subcostal nerve injury with high-resolution ultrasound in posterior retroperitoneoscopic adrenalectomy.

Background: Posterior retroperitoneoscopic adrenalectomy has several advantages over transabdominal laparoscopic adrenalectomy regarding operating time, blood loss, postoperative pain, and recovery. However, postoperatively several patients report chronic pain or hypoesthesia. We hypothesized that these symptoms may be the result of damage to the subcostal nerve, because it passes the surgical area.

Updates in diagnostic tools for diagnosing nerve injury and compressions.

Predicting prognosis after nerve injury and compression can be challenging, even for the experienced clinician. Although thorough clinical assessment can aid diagnosis, we cannot always be precise about long-term functional recovery of either motor or sensory nerves. To evaluate the severity of nerve injury, surgical exploration remains the gold standard, particularly after iatrogenic injury and major nerve injury from trauma, such as brachial plexus injury.

The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up.

Objectives: Muscle MRI and ultrasound provide complementary techniques for characterizing muscle changes and tracking disease progression in facioscapulohumeral muscular dystrophy (FSHD). In this cohort study, we provide longitudinal data that compares both imaging modalities head-to-head.

Methods: FSHD patients were assessed at baseline and after five years.

Electrodiagnostic studies and new diagnostic modalities for evaluation of peripheral nerve disorders.

Electrodiagnostic studies (EDx) are frequently performed in the diagnostic evaluation of peripheral nerve disorders. There is increasing interest in the use of newer, alternative diagnostic modalities, in particular imaging, either to complement or replace established EDx protocols. However, the evidence to support this approach has not been expansively reviewed.

Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disease, that causes weakness and wasting of skeletal muscles. In this cross-sectional cohort-study on FSHD patients, we assessed muscle ultrasound findings and their relation to clinical outcome measures, evaluating the role of ultrasound as biomarker in FSHD. We included 115 genetically confirmed FSHD patients (52% males, age-range 22-80 years).

Comparison of muscle ultrasound and needle electromyography findings in neuromuscular disorders.

Introduction/aims: Needle electromyography (EMG) and muscle ultrasound can be used to evaluate patients with suspected neuromuscular disorders. The relation between muscle ultrasound pathology and the corresponding needle EMG findings is unknown. In this study we compared the results of concurrent ultrasound and needle EMG examinations in patients suspected of a neuromuscular disorder.

Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome.

Background: Glucose is an important fuel for the brain. In glucose transporter 1 deficiency syndrome (GLUT1DS), the transport of glucose across the blood-brain barrier is limited. Most individuals with GLUT1DS present with developmental problems, epilepsy, and (paroxysmal) movement disorders, and respond favorably to the ketogenic diet.

-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study.

Background And Objectives: -related muscular dystrophy (-MD) is a rare neuromuscular disease characterized by proximal and axial muscle weakness, rigidity of the spine, scoliosis, and respiratory impairment. No curative treatment options exist, yet promising preclinical studies are ongoing. Currently, there is a paucity on natural history data, and appropriate clinical and functional outcome measures are needed.

Neuromuscular ultrasound as a marker for inherited sensory neuronopathy.

A review and detailed analysis of the literature over the past two decades has revealed a unique ultrasound feature of pathologically "small" nerves in inherited sensory neuronopathies. Although sample sizes were limited, due to the rarity of these diseases, this characteristic ultrasound finding has been consistently reported across a variety of inherited diseases that affect the dorsal root ganglia. Direct comparisons with both acquired and inherited diseases that primarily affect the axons in the peripheral nerves showed that the ultrasound finding of abnormally "small" cross-sectional areas (CSAs) in mixed nerves of the upper limbs has a high diagnostic accuracy for inherited sensory neuronopathy.