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Dejerine-Sottas disease type of Hereditary motor and sensory neuropathy.
HNPP is part of the group of Hereditary Motor and Sensory Neuropathy (HMSN) and is linked to Charcot Marie Tooth disease (CMT).
Also known as Hereditary Motor and Sensory Neuropathy (HMSN), it is genetically heterogeneous and usually presents in the first decade of life with delayed motor milestones, distal muscle weakness, clumsiness and frequent falls.
Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) is an autosomal dominant neurodegenerative disorder that is defined by extensive involuntary and spontaneous muscle contractions, asthenia, and atrophy with distal sensory involvement following.
CMT HSMN hereditary motor and sensory neuropathy peroneal muscular atrophy None Charcot Marie Tooth disease is a group of disorders in which the motor and/or sensory peripheral nerves are affected, resulting in muscle weakness and atrophy, as well as sensory loss.
His research is focused on inherited disorders of the peripheral nervous system, classified as hereditary motor and/or sensory neuropathies and the most common inherited peripheral neuropathy is Charcot-Marie-Tooth (CMT) disease or Hereditary Motor and Sensory Neuropathy (HMSN).