A 90 day old boy presented with frequent breathing difficulties and was found to have hypotonia in the lower limbs, inability to withdraw from painful stimuli, and sluggish deep reflexes. Based on these findings and the rare occurrence, he was diagnosed with spinal muscular atrophy with respiratory distress type 1 (SMARD1), a genetic motor neuron disorder characterized by diaphragmatic weakness, distal muscle atrophy, and autonomic dysfunction. Genetic testing confirmed the diagnosis of SMARD1, which is caused by mutations in the IGHMBP2 gene and accounts for approximately 1% of spinal muscular atrophy cases. Current availability of genetic testing allows for more accurate diagnosis and management of life-limiting genetic disorders like SM

1. CASE REPORT ON SYSTEMIC MUSCULAR ATROPHY RESPIRATORY DISODER
(GRADE 1)
Introduction
Spinal muscular atrophy (SMA) is a severe neuromuscular disease characterized by degeneration
of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness
and paralysis. SMA is the second most common fatal autosomal recessive disorder after cystic
fibrosis, with an estimated incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier
frequency of 1/40-1/60.1 SMA type 1 (Werdnig-Hoffmann disease) is the most severe and
common type, which accounts for about 50% of patients diagnosed with SMA. Classically
infants with SMA type I have onset of clinical signs before 6 months of age, never acquire the
ability to sit unsupported and, if no intervention is provided, generally do not survive beyond the
first 2 years. SMA type II is characterized by onset between 7 and 18 months of age. Patients
achieve the ability to sit unsupported and some of them are able to acquire standing position, but
they do not acquire the ability to walk independently. SMA type III (Kugelberg-Welander
disease) includes clinically heterogeneous patients. They typically reach all major motor
milestones, as well as independent walking.
Case Report
A 90 days old boy, first born child, birth weight of 1.5 kg without significant antenatal history,
presented with frequent episodes of breathing difficulty. On admission baby was alert and active.
He had hypotonia on lower limbs. He had head circumference-39 cm, <3rd centile. On
examination 3,4,6 cranial nerves are intact 9,10,11 bulbular nerves also intact. He had partial
neck control, with antigravity movement of upper limbs. On extensive evaluation, noted that he
can’t able to withdraw to painful stimulus. Sluggish responds to deep reflexes and not elicitable
towards superficial reflex. No significant laboratory investigations were found. Symptomatic
treatment was provided during the admission. Physicians were suggested to higher medical
center.
Discussion
SMARD1 is rare, autosomal, recessive, motor neuron disorder affecting infants and
characteristically have diaphragmatic weakness, distal muscle atrophy, motor sensory
neuropathy, and autonomic dysfunction (apneic episodes); all of which were noted in this case.
Grohmann et al., described 29 infants with SMARD1 phenotype with mutations in IGHMBP.2 In

2. a series of 200 infants by Rudnik-Schöneborn et al., with SMA, 1% were negative for SMN gene
and had phenotype of SMARD1, hence making it a rare entity.3
Conclusion
Currently, the scenario for genetic testing is much better and readily available across various
centers in India, and they are efficacious tests to manage these life-limiting disorders.
REFERENCE
1. Messina MF, Messina S, Gaeta M, Rodolico C, Salpietro Damiano AM, et al. Infantile
spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical
phenotype and review of the literature. Eur J Paediatr Neurol 2012;16:904.
2. Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, et al. Infantile spinal
muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol 2003;54:719-
24.
3. Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K. Clinical spectrum and
diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of
SMN gene deletion findings. Neuropediatrics 1996;27:8-15.