All individuals with variants in gene ANO10

12 entries on 1 page. Showing entries 1 - 12.
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00151384 - - - M - (Germany) - - - - - ? Ataxia (HP:0001251); Progressive gait ataxia (HP:0007240); Dysarthria (HP:0001260) 2 1 IMGAG
00293390 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00373294 174509 - - F no Germany - - - - - SCAR10 Gait ataxia; Limb ataxia 2 1 Andreas Laner
00374656 S-424 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00397579 FamPat1 - 2-generation family, 2 affected sisters, unaffected parents F yes Egypt Egypt - - - - ataxia normal pregnancy and delivery; normal developmental milestones; walks with mild support; 34y-insidious illness, progressive limb incoordination, abnormal gait; 35y-dysarthria, staccato speech; no peripheral nerve affection, no sensory system affection, no sphincteric disturbance, no cognitive deterioration, no cranial nerve involvement; limb ataxia, wide base staggering gait, normal sensation, flexor planter response, normal tendon jerks, normal superficial reflexes 1 2 Sherifa Ahmed Hamed
00398060 - - - F - Egypt Egyptian - - - - ataxia Developmental history: The patient is a product of normal pregnancy and delivery Social history: 6th in birth order and he has 2 sisters and 4 brothers. Family history: o History of consanguineous marriage (3rd degree, parents are cousins) o There is history of affection of her older brother (age 37 years old). He had similar condition with progressive incoordination in form of unsteadiness of gait, intension tremors, and staccato speech. He now walks with moderate support History of present illness: At the age of 19 years, the patient developed an insidious illness, in the form of gait disturbance (ataxia). At age of 20 years he developed dysarthria (staccato speech). At age of 24, she developed intension tremors in both hands. No history of weakness of upper or lower limbs. No sphincteric disturbance. No cognitive deterioration. No cranial nerve involvement. No history of DM. The patient still walks without support. Neurological examination of the patient (HFA0017-a): Staccato speech Normal fundus examination No nystagmus Wide base gait Wasting of small muscle of hand. Hypotonia around ankle. Muscle power: grade 5. Positive tests of incoordination in both upper and lower limbs. Positive Rhomorgism. Preserved deep reflexes in both upper and lower limbs. Intact abdominal reflexes Equivocal planter response Intact superficial sensation. Lost sense of vibration Investigations: NCS of both UL and LL: axonal neuropathy of LL. 1 1 Sherifa Ahmed Hamed
00403760 FamPat2 - sister F yes Egypt - - - - - ataxia similar phenotype as sister 1 1 Sherifa Ahmed Hamed
00408671 Pat14 PubMed: Thomas 2022 no family history - yes France - - - - - ? - 2 1 Johan den Dunnen
00408675 Pat30 PubMed: Thomas 2022 no family history - no France - - - - - ? - 1 1 Johan den Dunnen
00427970 A006 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00440452 PED3167.1 PubMed: Nambot 2018 - - - France - - - - - ? - 2 1 Johan den Dunnen
00460907 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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