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Infantile Axonal Neuropathy


Presentation

  • Patients usually present with intellectual disability, epilepsy, nystagmus and dysarthria that worsens in the second decade of life, and mortality typically occurs in the third decade.[orpha.net]
Epilepsy
  • Patients usually present with intellectual disability, epilepsy, nystagmus and dysarthria that worsens in the second decade of life, and mortality typically occurs in the third decade.[orpha.net]
Asymptomatic
  • Parents of an affected child are obligate heterozygotes and asymptomatic. Genetic counseling can inform parents that the risk of having an affected child is 25%.[orpha.net]
Falling
  • Clinical hallmarks include progressive gait disturbance (frequent falls due to muscle weakness, sensory neuropathy and ataxia), everted feet, crouched gait, tightly curled hair, and early-onset central nervous system (CNS) involvement, including pyramidal[orpha.net]
Weakness
  • Other clinical signs include facial weakness, optic atrophy, ophthalmoplegia, skeletal deformations (e.g. foot deformities, scoliosis) and tremor.[orpha.net]
Disability
  • Patients usually present with intellectual disability, epilepsy, nystagmus and dysarthria that worsens in the second decade of life, and mortality typically occurs in the third decade.[orpha.net]
Kinky Hair
  • Clinically heterogeneous cases, with GAN presenting with a mild Charcot-Marie-Tooth (CMT)-like phenotype or manifesting with a later age of onset, absence of kinky hair, and slower progression, have recently been documented.[orpha.net]
Muscular Atrophy
  • Differential diagnosis Differential diagnosis includes CMT-1F, -2E, -4A, -4B, -4C, -4D and -4E, the classic form of infantile neuroaxonal dystrophy, arylsulfatase A deficiency, spinal muscular atrophy, Friedreich ataxia, globoid cell leukodystrophy, n-hexane[orpha.net]
Muscle Weakness
  • Clinical hallmarks include progressive gait disturbance (frequent falls due to muscle weakness, sensory neuropathy and ataxia), everted feet, crouched gait, tightly curled hair, and early-onset central nervous system (CNS) involvement, including pyramidal[orpha.net]
Foot Deformity
  • Other clinical signs include facial weakness, optic atrophy, ophthalmoplegia, skeletal deformations (e.g. foot deformities, scoliosis) and tremor.[orpha.net]
Suggestibility
  • Lack of curly hair is correlated with milder disease and slower disease progression, which would suggest a less stark prognosis. The documents contained in this web site are presented for information purposes only.[orpha.net]
Nystagmus
  • Patients usually present with intellectual disability, epilepsy, nystagmus and dysarthria that worsens in the second decade of life, and mortality typically occurs in the third decade.[orpha.net]
Cerebellar Sign
  • signs that, when present together almost clinch the diagnosis.[orpha.net]
Ataxia
  • Clinical hallmarks include progressive gait disturbance (frequent falls due to muscle weakness, sensory neuropathy and ataxia), everted feet, crouched gait, tightly curled hair, and early-onset central nervous system (CNS) involvement, including pyramidal[orpha.net]
Tremor
  • Other clinical signs include facial weakness, optic atrophy, ophthalmoplegia, skeletal deformations (e.g. foot deformities, scoliosis) and tremor.[orpha.net]
Dysarthria
  • Patients usually present with intellectual disability, epilepsy, nystagmus and dysarthria that worsens in the second decade of life, and mortality typically occurs in the third decade.[orpha.net]

Treatment

  • Management and treatment Treatment is symptomatic, focusing on stimulating intellectual and physical development, as well as communication skills, through physical, occupational and speech therapy, since the initiation of symptoms.[orpha.net]

Prognosis

  • Prognosis The prognosis varies but is usually poor. Most patients become wheelchair-dependent in the second decade of life and eventually progress to a bedridden state in early adulthood.[orpha.net]

Etiology

  • Etiology GAN is associated with more than 50 different causative mutations in GAN gene (16q24.1), encoding the ubiquitously expressed cytoskeletal protein gigaxonin. Diagnostic methods Diagnosis is based on clinical findings and imaging.[orpha.net]

Epidemiology

  • Summary Epidemiology The prevalence is unknown, but to date approximately 50 families have been reported.[orpha.net]
Sex distribution
Age distribution

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