Slowly Progressive Limb-Girdle Weakness and HyperCKemia - Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?

Abstract

BACKGROUND:

Anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR)-myopathy is a usually rapidly progressive form of immune-mediated necrotizing myopathy (IMNM). Rarer clinical courses show slow progression and resemble the phenotype of limb-girdle dystrophy (LGMD).

OBJECTIVE:

We demonstrate the difficulties in differentiating LGMD versus anti-HMGCR-myopathy.

METHODS:

We report on a 48-year-old patient with slowly progressive tetraparesis and hyperCKemia for more than 20 years.

RESULTS:

Due to myopathic changes in initial and second muscle biopsy and typical clinical presentation, the patient was diagnosed with LGMD 20 years ago; despite comprehensive genetic testing including exome diagnostics, the genetic cause of disease could not be identified. Finally, HMG-CoA reductase antibodies were detected, confirming the diagnosis of anti-HMGCR-myopathy. By re-work-up of a second muscle biopsy specimen from year 2009, the diagnosis of a IMNM was made in retrospect. Seven cycles of high-dose immunoglobulins were administered; patient reported outcome measures have mildly improved.

CONCLUSION:

Patients with clinical LGMD phenotype, degenerative changes in muscle biopsy but without genetic confirmation of the disease should be tested for HMG-CoA-myopathy, thereby allowing for an early start of treatment.

• Authors: Miriam Hiebeler, Raimo Franke, Maria Ingenerf, Sabine Krause, Payam Mohassel, Katherine Pak, Andrew Mammen, Benedikt Schoser, Carsten G Bönnemann, Maggie C Walter
• Journal: Journal of neuromuscular diseases (J Neuromuscul Dis) Vol. 9 Issue 5 Pg. 607-614 ( 2022) ISSN: 2214-3602 [Electronic] Netherlands
• PMID: 35754285 (Publication Type: Case Reports, Journal Article)

Chemical References

• Autoantibodies
• Oxidoreductases

Topics

• Autoantibodies
• Autoimmune Diseases
• Humans
• Muscular Diseases (pathology)
• Muscular Dystrophies, Limb-Girdle (complications, diagnosis, genetics)
• Myositis (pathology)
• Oxidoreductases