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Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity(HMNR11)

MedGen UID:
1856205
Concept ID:
C5935630
Disease or Syndrome
Synonym: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY
 
Gene (location): RTN2 (19q13.32)
 
Monarch Initiative: MONDO:0971150
OMIM®: 620854

Definition

Autosomal recessive distal hereditary motor neuropathy-11 with spasticity (HMNR11) is characterized by onset of slowly progressive distal muscle weakness and atrophy and spasticity of the lower limbs in the first decade of life. Affected individuals have difficulty walking, although ambulation is retained into adulthood. There is usually upper limb involvement. Some patients have foot deformities. Electrophysiologic studies are consistent with a length-dependent axonal motor neuropathy (Maroofian et al., 2024). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). [from OMIM]

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