Facioscapulohumeral Muscular Dystrophy Serum

Human Facioscapulohumeral Muscular Dystrophy Serum for Genetic Neuromuscular Research

Our Facioscapulohumeral Muscular Dystrophy Serum is sourced from IRB-consented donors clinically diagnosed with facioscapulohumeral muscular dystrophy (FSHD), processed and frozen within 24 hours of collection to preserve labile analytes. Serum is an acellular matrix, so these samples support analyte-level work: muscle injury chemistry, targeted and discovery proteomics, and metabolite profiling.

DUX4 De-repression and the Genetics of FSHD

FSHD is a genetic neuromuscular disorder characterised by progressive, often strikingly asymmetric weakness that begins in facial, scapular and humeral muscles before extending elsewhere. It is not an autoimmune or primarily inflammatory disease; the unifying mechanism is inappropriate expression of a transcription factor that should be silenced in mature somatic muscle.

• The disease results from de-repression of DUX4, a retrogene within the D4Z4 macrosatellite array at chromosome 4q35, whose ectopic expression in skeletal muscle is toxic to myonuclei.
• FSHD1, the large majority of cases, is caused by contraction of the D4Z4 repeat array, which relaxes chromatin and permits DUX4 expression — but only in the presence of a permissive 4qA haplotype supplying a polyadenylation signal.
• FSHD2 is caused by variants in chromatin modifiers, most commonly SMCHD1 and less frequently DNMT3B, producing D4Z4 hypomethylation and the same downstream DUX4 de-repression on a non-contracted array.
• Because the genetic routes converge on a shared mechanism, FSHD1 and FSHD2 are clinically similar, and genotype-annotated donors are valuable for separating the two.
• Creatine kinase is typically normal to mildly elevated in FSHD, unlike the marked elevations seen in dystrophinopathies, and remains a routine serum chemistry readout in this population.
• Circulating biomarkers in FSHD are less established than in some other neuromuscular diseases; serum is best used for discovery proteomics, muscle-injury and metabolite panels, and as characterised comparator material rather than for a single validated analyte.

Donor Stratification Available

• Genetic subtype: FSHD1 (D4Z4 contraction) or FSHD2 (SMCHD1-associated) where documented
• Age at onset and disease duration
• Clinical severity and ambulatory status where documented
• Pattern of muscle involvement, including asymmetry and degree of lower limb involvement
• Extramuscular features: retinal vasculopathy or hearing loss where documented
• Respiratory involvement where documented
• Matched healthy controls available

Product Features

• Research Use Only (RUO) human serum from clinically confirmed FSHD donors
• Processed and frozen within 24 hours of collection
• Standard and custom aliquot volumes; volumes reported per lot
• Rigorous donor screening and lot-level quality checks
• IRB-approved protocols with documented consent

De-identified Donor Data

• Diagnosis confirmation, genetic subtype and method of confirmation where documented
• Age, sex assigned at birth, and ethnicity
• Donor-reported medical history, medications and comorbidities
• Functional status and disease severity where documented
• Additional FSHD-specific metadata available on request

Applications

• Muscle injury chemistry, including creatine kinase measurement
• Discovery and targeted serum proteomics in genetic neuromuscular disease
• Metabolite and lipid profiling
• Biomarker discovery and validation for FSHD disease progression
• FSHD1 versus FSHD2 comparative analyte studies
• Pharmacodynamic endpoint development for DUX4-directed therapeutic programmes
• Comparator material for other muscular dystrophy and myopathy cohorts
• Rare disease assay development and control matrix

Other Facioscapulohumeral Muscular Dystrophy Specimen Types

• Facioscapulohumeral Muscular Dystrophy Plasma
• Facioscapulohumeral Muscular Dystrophy Whole Blood
• Facioscapulohumeral Muscular Dystrophy PBMC

Compliance and Quality Assurance

• IRB-approved and HIPAA-compliant protocols
• Electronic informed consent with 21 CFR Part 11-compliant e-signatures
• Standardised collection and processing SOPs
• Documentation support available for regulatory review

Ordering & Customization

Facioscapulohumeral Muscular Dystrophy Serum is available in standard and custom volumes. For pricing, current availability, international orders or documentation requirements, email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. To browse other disease-state options and live stock status across our serum inventory, visit our human serum page.