Synonyms:
a.k.a. Landuzy-Dejerine disease
Muscle biopsy:
3 patterns
- Pseudoneurogenic: atrophied angulated fibres in nests
- Dystrophic: whorled fibres, moth eaten fibres, lobulated fibres. Endomysial fibrosis.
- Pseudomyositic: inflammatory cellular mononuclear infiltrates
Diagnosis:
Genetic analysis (blood test): deletion at 4q35. i.e. deletion of the telomeric region
Genetics:
Genetic analysis (blood test): deletion at 4q35. i.e. deletion of the telomeric region
Clinical features:
Onset 10-40 years old
Facial weakness (Bell’s phenomenon)
+/- Shoulder girdle weakness:
- Serratus anterior (Winging of scapula), pectoralis and trapezius
- With relative sparing of deltoids and forearms (Popeye arms).
- Preserved lower limbs
- Congenital absence of pectoralis, biceps or brachialis may occur, forearm pseudohypertrophy may occur
Related articles:
- Myopathy,
- Duchenne muscular dystrophy, Becker muscular dystrophy, Limb girdle muscular dystrophy LGMDs, Emery-Dreifuss muscular dystrophy,