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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Clinical features of the hereditary sensory and autonomic neuropathies

Clinical features of the hereditary sensory and autonomic neuropathies
Disorder Gene Clinical features
HSAN1

SPTLC1

SPTLC2

ATL1

DNMT1

ATL3
Most are autosomal dominant
Onset often in early adulthood but variable
Distal sensory loss, foot ulcers
Preservation of facial sensation
Variable muscle wasting and weakness
Variable neural deafness and dementia
HSAN2

WNK1/HSN2

FAM134B

KIF1A

SCN9A
Autosomal recessive
Loss of pain, temperature, and tactile sensation
Recurrent infection and fractures of the digits
HSAN3 (familial dysautonomia) IKBKAP Autosomal recessive
Progressive sensorimotor neuropathy
Sympathetic autonomic dysfunction
Smooth tongue without fungiform papillae
HSAN4 (congenital insensitivity to pain with anhidrosis) NTRK1 Autosomal recessive
Profound loss of pain sensitivity
Defects in thermoregulation
Anhydrosis
Mild to moderate mental retardation
Microcephaly
Fungiform papillae are present
HSAN5 NGFB Autosomal recessive
Loss of pain and temperature sensation
Normal muscle strength
Normal reflexes
Normal nerve conduction
HSAN6 DST Autosomal recessive; Ashkenazi Jewish
Autonomic dysfunction
Absent fungiform papillae
Death by age 2 years
HSAN7 SCN11A Autosomal dominant
Congenital insensitivity to pain
Self-mutilation, slow wound healing, painless bone fractures
Gastrointestinal dysfunction
Hyperhidrosis
HSAN8 PRDM12 Autosomal recessive
Self-mutilation, insensitivity to pain
Soft tissue injuries
Corneal scarring
Hypohidrosis
HSAN and dementia PRNP Autosomal dominant
Dementia
Autonomic dysfunction
Sensory loss
Hereditary sensory neuropathy with spastic paraplegia CCT5 Autosomal recessive
Spastic paraplegia
Ulcerations of hands and feet
Insensitivity to pain SCN9A

Autosomal recessive:

Insensitivity to pain
Paroxysmal extreme pain disorder
Primary erythermalgia

Autosomal dominant:

Paroxysmal extreme pain disorder

Primary erythermalgia

Small fiber neuropathy
Small fiber neuropathy
AD: autosomal dominant; AR: autosomal recessive; HSAN: hereditary sensory and autonomic neuropathy.
Graphic 67377 Version 6.0

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