distress (sequence analysis of IGHMBP2 gene) Charcot-Marie-Tooth disease (disease exome based NGS panel for 43 genes) Spinal muscular atrophy (NGS panel for 21 genes) [cgcgenetics.com]

Distress 1 Spinal Muscular Atrophy, Diaphragmatic DSMA1 DHMN6 HMN VI HMN6 SIANRF SMARDI 604320 Genetic Test Registry [ukgtn.nhs.uk]

IGHMBP2 gene mutations can present with two different phenotypes: 1) the severe SMARD1 (Spinal Muscular Atrophy associated with Respiratory Distress) or 2) the milder CMT2S. Both are rare and recessive in nature. [cmtausa.org]

Pain is rarely an initial symptom but most patients experience pain during the course of their disease. [ 6 ] Generalised tendon areflexia. There may be foot drop and foot deformity. [patient.info]

In one study, ankle jerks were absent in 37.5%, and areflexia occurred in 12.5%. [emedicine.medscape.com]

Physical examinations at age 5 revealed a mild atrophy and weakness of the intrinsic muscles of the feet (score 2/5), impaired dorsiflexion of the feet (score 2 3/5), generalized areflexia, and mildly diminished sensation of all modalities in regions [journals.plos.org]

On examination, most patients with CMT exhibit distally dominant weakness, hyporeflexia, and muscle atrophy affecting the legs earlier and more significantly than the arms. [emedicine.medscape.com]

Common clinical manifestations of CMTX1 disease, as in other forms of Charcot-Marie-Tooth (CMT) disease, are distal muscle wasting and weakness, hyporeflexia, distal sensory disturbance, and foot deformities. [pediatrics.aappublications.org]

The proband's two younger sisters (II:3 and II:6) and niece (III:3) denied to have any neurological symptoms; however, neurological examinations uncovered mild atrophy, weakness in the intrinsic foot muscles (score 4 /5) and generalized hyporeflexia in [journals.plos.org]