Macroglossia

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Macroglossia. Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD). Fully referenced neurology checklist.

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

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Dental causes

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Systemic causes

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Drug-induced

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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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