Dataset Information

New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies.

ABSTRACT: Hereditary neuropathies are of variable genotype and phenotype. With upcoming therapies, there is urgent need for early disease recognition and outcome measures. High-resolution nerve and muscle ultrasound is a dynamic, non-invasive, well-established tool in the field of inflammatory and traumatic neuropathies. In this study, we defined nerve and muscle ultrasound parameters as recognition and progression markers in 150 patients with genetically confirmed hereditary neuropathies, including Charcot-Marie-Tooth (CMT) disease (CMT1A, n = 55; other CMT1/4, n = 28; axonal CMT, n = 15; CMTX, n = 15), hereditary neuropathy with liability to pressure palsies (HNPP, n = 16), hereditary transthyretin-amyloidosis (ATTRv, n = 14), and Fabry's disease (n = 7). The CMT1A, followed by the CMT1/4 group, had the most homogeneous enlargement of the nerve cross-sectional areas (CSA) in the ultrasound pattern sum (UPSS) and homogeneity score. Entrapment scores were highest in HNPP, ATTRv amyloidosis, and Fabry's disease patients. In demyelinating neuropathies, the CSA correlated inversely with nerve conduction studies. The muscle echo intensity was significantly highest in the clinically most affected muscles, which was independent from the underlying disease cause and correlated with muscle strength and disease duration. Further correlations were seen with combined clinical (CMTES-2) and electrophysiological (CMTNS-2) scores of disease severity. We conclude that nerve ultrasound is a helpful tool to distinguish different types of hereditary neuropathies by pattern recognition, whereas muscle ultrasound is an objective parameter for disease severity. The implementation of neuromuscular ultrasound might enrich diagnostic procedures both in clinical routines and research.

SUBMITTER: Winter N

PROVIDER: S-EPMC8804010 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:ContextThe medial head of the gastrocnemius is the third most commonly strained muscle in elite athletes after the biceps femoris and rectus femoris. The differential diagnosis of posterior calf injury includes musculoskeletal and nonmusculoskeletal causes. Classically, delineation of these injuries from one another relied primarily on historical features and physical examination findings. The utilization of musculoskeletal ultrasound (sonography) has augmented the diagnosis of these injuries by providing dynamic, real-time confirmation.Evidence acquisitionA review of PubMed, OVID, and MD Consult prior to January 2016 was performed using search terms, including s oleus ultrasound, gastrocnemius ultrasound, and tennis leg. The references of the pertinent articles were further reviewed for other relevant sources.Study designClinical review.Level of evidenceLevel 4.ResultsThere have been few reviews to date of calf injuries and the use of sonography in their diagnosis. Prompt diagnosis utilizing ultrasound allows the clinician to focus management on gastrocnemius injury if present. Two-thirds of calf injuries occur at the junction of the fascia between the medial head of the gastrocnemius and the soleus. Injuries to the lateral head of the gastrocnemius occur in up to 14% of patients in some case series, but injury may occur anywhere from the proximal origin to the mid-belly to the fascial junction with the soleus. Numerous injuries to the posterior compartment can mimic gastrocnemius strain, and musculoskeletal ultrasound can aide in their diagnosis by incorporating real-time imaging into the grading of the injury and visual confirmation of physical examination findings.ConclusionAcute injury to the posterior compartment of the lower extremity can represent a diagnostic challenge. Medial gastrocnemius strain represents the most common injury of the posterior compartment of the lower extremity. Ultrasound is a useful tool to assist the clinician in determining the specific cause of calf injury, estimate the severity of the injury, and monitor progress of healing. The vast majority of calf injuries can be diagnosed and managed without any additional imaging. Serial diagnostic ultrasound of an injured area allows for direct monitoring of tissue healing and may allow the clinician to more confidently assess response to treatment and help guide return-to-play decisions.

Dataset Information

New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets