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Gene: GDAP1

Green List (high evidence)

GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is an aggressive severe form of peripheral neuropathy with early onset and unusual manifestations (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Proximal muscles can also become weak. Age at onset ranges from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal.
The dominant form is typically associated with a milder phenotype that is slowly progressive.

Created: 4 Nov 2024, 3:17 a.m. | Last Modified: 4 Nov 2024, 3:17 a.m.

Panel Version: 1.546

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340; Charcot-Marie-Tooth disease, type 4A, MIM#214400

Publications

• PMID: 20301711
• 16172208
• 21753178
• 21365284
• 20232219
• 11743580