Dados do Trabalho

Título

Hereditary axonal motor neuropathy due to DYNC1H1 gene mutation, new form of Marie Tooth Charcot Disease

RESUMO

Case presentation: C.A.A, male, 53 years old, hypertensive and asthmatic. He reports adequate neuropsychomotor development and at 6 years of age he began to have difficulty walking, due to distal weakness in the lower limbs and the presence of left tendon retraction. At age 18 he walked with unilateral support. Referred for evaluation at age 49 years after performing electroneuromyography with the presence of neurogenic motor unit potentials in the soleus and tibialis anterior muscles, with anterior tip potentials and absence of current denervatory activity. A genetic test was performed for progressive spinal amyotrophy and showed no deletions in the SMN1 gene. Thus, the investigation was continued with hereditary neuropathy panel and evidenced a heterozygous mutation in the DYNC1H1 gene (OMIN* 600112). This variant is associated in this case with axonal type 2O Charcot-Marie-Tooth disease. Referred to motor rehabilitation, with improvement in ambulation afterwards. Thus, the investigation was continued with the hereditary neuropathy panel and evidenced a heterozygous mutation in the DYNC1H1 gene (OMIN* 600112). This variant is associated in this case with axonal type 2O Charcot-Marie-Tooth disease. Referred to motor rehabilitation, with improvement in ambulation.
Discussion: Hereditary neuropathy encompasses a group of genetic disorders with a phenotypic spectrum that ranges from oligosymptomatic to severe disability. Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy, and it may exclusively affect peripheral nerves and produce symptoms of their dysfunctions.
Final comments: The advancement of genetic testing allowed new mutations to be discovered or those that were previously not considered pathogenic to become later. In the case described, it was discovered that the patient's variant could manifest with the Charcot-Marie phenotype or spinal muscular atrophy predominantly in the lower limbs type 1. Thus, given the clinical picture and the neurological examination, it was associated with Charcot-Marie, this is a new form of the disease.