Thelansis

Charcot-Marie-Tooth disease type 2S (CMT2S) is an autosomal recessive axonal neuropathy characterized by the progressive weakening and wasting of distal muscles in the lower and upper limbs, typically manifesting in the first decade of life. Patients with CMT2S exhibit reduced reflexes and varying degrees of sensory impairment, primarily affecting the distal regions. The underlying cause of CMT2S is a mutation in the IGHMBP2 gene. Mutations in the IGHMBP2 gene can result in two distinct phenotypes: 1) severe SMARD1 (Spinal Muscular Atrophy associated with Respiratory Distress) or 2) milder CMT2S. Both conditions are rare and exhibit recessive inheritance patterns. The specific mutations within the IGHMBP2 gene determine whether patients develop SMARD1, characterized by autosomal recessive mutations in IGHMBP2 that are unrelated to the myelin protein MBP, or CMT2S, which leads to a gradual progression of weakness, muscle wasting, and sensory loss associated with an axonal neuropathy typ...