Limb girdle muscular dystrophy (LGMD): differentials and management

Differential diagnosis

• Duchenne muscular dystrophy (DMD)
• Becker muscular dystrophy (BMD)
• Facioscapulohumeral muscular dystrophy (FSHD)
• Spinal muscular atrophy (SMA): types 2 and 3
• Emery Dreifuss muscular dystrophy (EDMD)
• Bethlem myopathy
• Adult onset Pompe disease
• Polymyositis
• Dermatomyositis
• Inclusion body myositis (IBM)

Neurological investigations

Genetics

Respiratory assessments: indications

Cardiac assessments: indications

Physical therapies

Cardiorespiratory monitoring and management

Other interventions

References

1. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009; 9:314-323.
2. Murphy AP, Straub V. The classification, natural history and treatment of the limb girdle muscular dystrophies. J Neuromuscul Dis 2015; 2:S7-S19.
3. Preisler N, Lukacs Z, Vinge L, et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab 2013; 110:287-289. 
4. Mercuri E, Bushby K, Ricci E, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 2005; 15:164-171.
5. Ghaoui R, Cooper ST, Lek M, et al. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy. JAMA Neurol 2015; 72:1424-1432. 
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Related checklists

• Autosomal dominant limb girdle muscular dystrophy (LGMD1): key features
• Autosomal recessive limb girdle muscular dystrophy (LGMD2): key features
• Limb girdle muscular dystrophy type 2Z (LGMD 2Z)