Familial hypertrophy of masticatory muscles

Area of Science:

• Neurology
• Genetics
• Medical Imaging

Background:

• Idiopathic hypertrophy of the masticatory muscles is a rare condition characterized by abnormal muscle enlargement.
• Familial occurrence suggests a potential genetic component.

Observation:

• Three familial cases of idiopathic masticatory muscle hypertrophy were reported.
• The condition manifested in late childhood or early adult life.
• Symptoms were bilateral, insidious, painless, and non-progressive.

Findings:

• Electrophysiological and laboratory tests were normal in one case.
• Computed tomography (CT) scans revealed homogeneous, bilateral enlargement of the masseter muscles, confirming true hypertrophy.
• Two patients presented with associated congenital malformations.

Implications:

• This study highlights the rare familial occurrence of idiopathic masticatory muscle hypertrophy.
• The findings contribute to understanding the clinical presentation and diagnostic features of this condition.
• Further research may elucidate the genetic basis and associated anomalies.