Спадкова сенсорна та автономна нейропатія, тип 7
ORPHA:391397· ICD-10 G60.8· Hereditary sensory and autonomic neuropathy type 7
Визначення(English summary)
A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal