1st order laboratory parameters – obligatory laboratory tests.
- Molecular genetic testing – analysis for mutations in the DMD gene in chromosome X.
- Serum analyses
- Mircro RNAs (form of non-coding RNAs, thus not coding for proteins: miR-1, miR-133, and miR-20) [↑]
- Transaminases [↑]
- Creatine kinase (CK) [Duchenne muscular dystrophy: elevated 10-100-fold]
Laboratory parameters 2nd order – depending on the results of the history, physical examination, etc. – for differential diagnostic clarification.
- Molecular genetic testing
- Gene EMD for the protein emerin on chromosome X (due toEmery-Dreifuss muscular dystrophy).
- Gene SMCDH1 and other chromosome 18 genes associated with facio-scapulo-humeral muscular dystrophy (FSHD).
- Of various genes associated with limb-girdle dystrophy.
- SMN1 gene on chromosome 5 (due tospinal muscular atrophy).
- AR gene of X chromosome (due tospinobulbar muscular atrophy Kennedy type).
- HIV test
- Tensilon test: i. v. administration of a short-acting cholinesterase inhibitorTensilon test is positive if there is an improvement in the performance of movements (repeated opening and closing of the eyes) compared to the findings before the injection → evidence of neuromuscular transmission disease) – if Lambert-Eaton-Rooke syndrome is suspected.
