Macroglossia

Evidence-based neurology checklist on macroglossia: Neuromuscular causes Duchenne muscular dystrophy (DMD) Becker muscular dystrophy (BMD) Limb girdle muscular dystrophy (LGMD) types 2C and 2U Myasthenia gravis (MG) Motor neurone disease (MND) Inclusion body myositis (IBM) Polymyositis Pompe…

Neuromuscular causes

  • Duchenne muscular dystrophy (DMD)
  • Becker muscular dystrophy (BMD)
  • Limb girdle muscular dystrophy (LGMD) types 2C and 2U
  • Myasthenia gravis (MG)
  • Motor neurone disease (MND)
  • Inclusion body myositis (IBM)
  • Polymyositis
  • Pompe disease
  • Hypothyroid myopathy (Hoffman syndrome)
  • Focal myositis

Other neurological causes

Dental causes

Systemic causes

Drug-induced

References

  1. McKee HR, Escott E, Damm D, Kasarskis E. Macroglossia in amyotrophic lateral sclerosis. JAMA Neurol 2013; 70:1432-1435.
  2. Topouzelis N, Iliopoulos C, Kolokitha OE. Macroglossia. Int Dent J 2011; 61:63-69. 
  3. Renard D, Humbertclaude V, Labauge P. Macroglossia in adult Duchenne muscular dystrophy. Acta Neurol Belg 2010; 110:288.
  4. Al-Zaidy SA, Malik V, Kneile K, et al. A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Mol Genet Genomic Med 2015; 3:92-98. 
  5. Tasca G, Moro F, Aiello C, et al. Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. Neurology 2013; 80:963-965. 
  6. And 28 more. Subscribe to see the full list

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