Case Report

The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures

Table 1

SMA5q types [10, 14, 15].

SMA typesSMN2 copiesAges of onsetMotor abilitiesPrognoses

Type 01Before birthVery severe hypotonia. The patient cannot reach any motor function milestones.The baby presents with respiratory insufficiency at birth. Death within a few weeks.
Type 12<6 monthsSevere hypotonia. The patient cannot sit or roll.The symptoms progress rapidly. Most infants die before the age of 2 years.
Type 236–18 monthsProximal muscle weakness. The patient cannot walk independently.Patients can have a shortened life expectancy. Frequently live into adulthood.
Type 33-4>18 monthsThe patient can lose the ability to walk.Usually life expectancy is not affected.
Type 44–8AdulthoodThe patient has a slight motor function impairment.Life expectancy is not affected.