An Unusual Case of Nemaline Myopathy Type 3

Objective: To report an interesting case of Nemaline Myopathy type 3 with alpha-actin1 (ACTA1) mutation.

Background: Nemaline myopathy (NM) is a rare congenital neuromuscular disorder that presents with facial weakness, bulbar symptoms, generalized muscle weakness, delayed motor development, hypotonia, and the diagnostic presence of rod-like structures in skeletal muscle biopsy. Currently, eleven different genetic mutations are associated with NM. Dominant and recessive mutations in the α-actin1 (ACTA1) gene are amongst the most frequent genetic cause of nemaline myopathy leading to different clinical phenotypes.

Case Description: We present a 27-month-old girl with global developmental delay, muscle weakness, and reflux. She was born at 38 weeks. At two months of age, her floppiness and lack of movement were noticed. Since then, she has been started on strict physical, occupational, speech, and behavioral therapy. She began sitting up at age one and started walking at 18 months. Currently, her motor functions are improving. She can say 1-2 words and is interactive with other children. Neurological examination showed a high arched palate with bilateral facial weakness and decreased muscle tone in all the extremities. Muscle strength was 4/5 in bilateral upper and lower extremities. Her gait was narrow-based with bilateral arm swing. She was able to sit and stand without assistance.

Conclusion: Symptom management is the basis of patient care in nemaline myopathy. However, as seen in this case, aggressive physical and speech therapy can lead to better motor function and quality of life in congenital myopathies and should be considered.