Comparative analysis of sporadic cases and family form of progressive muscular atrophy over a 30-year period (1986-2016) in the Republic Sakha (Yakutia)

Abstract

Progressive muscle atrophy (PMA) is a rare disease of the motor neuron disease group (MND), which is characterized by selective lesions of the anterior horns of the spinal cord.

Objective: to study the features of the course of sporadic and family form of PMA over the period from 1986 to 2016.

Materials and methods: in 2006, a personalized register was introduced, which included patients with MND (amyotrophic lateral sclerosis, progressive muscular atrophy, progressive bulbar paralysis, primary lateral sclerosis). Since 1986 till 2006 patients were introduced after a retrospective study. The study included 15 patients with sporadic form and 5 patients from the same family. For the described study, patients with PMA were divided into 2 groups: 1 group included sporadic cases of progressive muscle atrophy (n=16), 2 group consisted of sick family members of a family case of 2 women and 2 men (n=4). Clinical examination of patients included assessment of somatic and neurological status in the onset of the disease and its further development, age of onset and duration of course.

Research methods: needle electromyography (EMG), Amyotrophic lateral Sclerosis Functional Rating Scale (ALSFRS) [9], spirography (LNG), forced vital capacity (FVC), magnetic resonance imaging (MRI), computed tomography (CT) of brain and spinal cord. In 9 cases, direct DNA diagnosis was carried out to exclude Kennedy’s Bulbo-spinal amyotrophy.

Results: Our study revealed a moderate rate of progression in sporadic cases and a slow rate of progression in the family form of PMA. In our study, the duration of PMA was significantly higher in the family form and was 140±37.8 and 53.6±30.3 months in sporadic cases (p =0.003). In the family form of the disease, an earlier age of debut was observed than in sporadic PMA and in men the disease began earlier than in women.