HMSN symptoms
Hereditary Motor and Sensory Neuropathy Type 2, HMSN2, CMT2B1 (axonal) - LMNA
Clinical Features
The age of onset for Charcot-Marie-Tooth Neuropathy CMT2B1 is in a patient's teens. The first observation of this axonal neuropathy was in Morocco. Distal weakness, muscle atrophy and areflexia of the lower limbs, as well as a pes cavus are typical signs. Nerve conduction velocity is normal to slightly reduced.
Genetic Information
CMT2B1 is caused by mutations in the LMNA gene and follow an autosomal recessive pattern of inheritance. The LMNA gene itself is located on chromosom 1q22. LMNA is a structural protein of the nuclear membrane. Only one missense mutation (p.R298C) has been associated with this axonal neuropathy.
Prevalence
Rare
Diagnostic
Indication
Method
Mutation analysis of all coding regions, flanking intronic regions as well as the 5´ and 3´ untranslated regions of the LMNA gene by means of DNA sequence analysis.
Sample Requirement
2 - 4 ml of EDTA blood
Duration
4 - 6 weeks