Preferred Label : Distal hereditary motor neuropathy, Jerash type;
ICD-11 definition : A cluster of patients from consanguineous families was identified in the Jerash region
of Jordan. Patients developed weakness and atrophy of the lower limbs associated with
pyramidal features in the first decade of life. Weakness subsequently progressed to
involve upper limbs. Linkage analysis has mapped the disease to the locus 9p21.1-p12.;
ICD-11 synonym : Distal spinal muscular atrophy type 2;
Origin ID : 578991299;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
A cluster of patients from consanguineous families was identified in the Jerash region
of Jordan. Patients developed weakness and atrophy of the lower limbs associated with
pyramidal features in the first decade of life. Weakness subsequently progressed to
involve upper limbs. Linkage analysis has mapped the disease to the locus 9p21.1-p12.
