Madras motor neuron disease in Turkey

Area of Science:

• Neurology
• Genetics
• Ophthalmology

Background:

• Madras Motor Neuron Disease (MMND) is a rare, juvenile-onset motor neuronopathy primarily affecting bulbar muscles.
• Most reported cases originate from South-Eastern Asia, with limited global data available.
• Understanding the genetic basis and geographical distribution of MMND is crucial for diagnosis and research.

Observation:

• A 19-year-old female presented with hoarseness and ptosis (eyelid drooping).
• Neurological examination revealed predominantly bulbar motor neuron involvement.
• Sensorineural hearing loss was also identified as a key clinical feature.

Findings:

• Comprehensive evaluations, including genetic, radiological, and electrophysiological studies, confirmed the diagnosis.
• The patient's presentation met the established diagnostic criteria for Madras Motor Neuron Disease (MMND).
• This represents the first documented case of MMND in Turkey.

Implications:

• The occurrence of MMND in Turkey expands the known geographical range of this rare disorder.
• This case suggests that MMND may arise from rare de novo mutations, not solely inherited factors.
• Further research into the genetic underpinnings of MMND is warranted to understand its diverse etiology.