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'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D
S M Sandell1, I Mahjneh, J Palmio
1Department of Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland; Neuromuscular Research Center, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland.
European Journal of Neurology
|July 20, 2013
Summary
Distinct MRI patterns in limb-girdle muscular dystrophy type 1D (LGMD1D) aid diagnosis. Fatty degeneration in specific lower leg muscles helps differentiate LGMD1D from other muscular dystrophies.
Area of Science:
- Neuromuscular Disorders
- Genetic Diseases
- Medical Imaging
Background:
- Limb-girdle muscular dystrophy type 1D (LGMD1D) is a rare genetic disorder.
- Previous research identified clinical, genetic, and molecular findings in DNAJB6-mutated LGMD1D.
- Additional families with LGMD1D were identified in Finland, Italy, and the US.
Observation:
- Muscle imaging (MRI) was performed on 23 of 28 patients with LGMD1D.
- T1-weighted MRI sequences revealed patterns of fatty degeneration in lower limb muscles.
- Specific muscles showed early involvement, while others were spared until later stages.
Findings:
- Early-stage fatty degeneration was observed in soleus, adductor magnus, semimembranosus, and biceps femoris muscles.
- Later involvement included medial gastrocnemius, adductor longus, and quadriceps vasti muscles.
- Rectus femoris, lateral gastrocnemius, sartorius, gracilis, and anterolateral lower leg muscles were spared.
Implications:
- The distinct pattern of muscle involvement on MRI is a valuable diagnostic tool for LGMD1D.
- Imaging findings can help differentiate LGMD1D, especially when clinical signs are non-specific.
- Molecular genetic confirmation remains essential for a definitive LGMD1D diagnosis.
