A Madras Motor Neuron Disease Patient With Cerebellar Atrophy: A New Clinical Feature

Abstract

A 34-year-old Chinese Han female complaining of general muscle weakness and wasting for 9 years. She was admitted for aggravation of her symptoms caused by respiratory distress. She also suffered from bulbar palsy. She had no hearing loss, visual problems, or cerebellar signs. Her parents had a consanguineous marriage, though there was no family history of these symptoms. Pure tone audiometric findings demonstrated no definite abnormality. Electromyography demonstrated neurogenic damage. Brain magnetic resonance imaging revealed cerebellar atrophy, dominantly in anterior lobe. Gene sequencing of whole gene exomes was negative. She was finally diagnosed with Madras motor neuron disease (MMND), a rare subtype of motor neuron disease. No definite therapy was available for MMND, and she died of respiratory tract infection 1 year later. Previous studies have shown that cerebellar signs are positive in 17.2% patients of MMND, but no case with cerebellar atrophy has been reported before. Thus, here we describe cerebellar atrophy as a new clinical feature of MMND.

Unveiling a Rare Case: Madras Motor Neuron Disease in an 18-Year-Old Patient

“…MMND, which makes up 0.9%-3.7% of all MND patients, is a unique kind of disease [3]. MMND is frequently characterized by early onset, unpredictable incidence, sensorineural hearing loss, multiple lower cranial nerve palsy, generalized atrophy with limb weakness, and a benign but progressive history.…”

“…small number of MMND patients have been reported from Pakistan (Khan and Rashid, 2013), Thailand (Phanthumchinda et al, 1996), Italy (Massa et al, 1998), China (Fan et al, 2004; He et al, 2015), Korea (Im and Kim, 2008), Turkey (Isak et al, 2009), and Pakistan(Fan et al, 2004) [3][4][5]. Notably, the majority of MMND cases are centered in southern India, giving rise to a distinctive geographic distribution for the disease.…”

“…The illness's pathophysiology is still unknown. Since familial MMND (FMMND) has also been recorded, genetic alterations should be taken into consideration even if the majority of reported instances seem to be sporadic (Massa et al, 1998) and 13.8% of cases (including non-familial and familial MMND) show parent consanguinity(Nalini et al, 2008) [3].…”