Alpers Disease - Children Living with Inherited Metabolic Diseases

Alpers Disease
Other names that are used for this condition are:
fJ; nt;Ek bJh tos/ ik_d/ j'o Bkw jBL
Alpers Syndrome
Progressive Infantile Poliodystrophy
Alpers Disease is a progressive neurological disorder that is believed to be caused by a biochemical
fault that leads to damage and loss of cells in the grey matter of the brain. This damage causes
difficulties in passing messages (nerve signals) within the brain and from the brain to other parts of
the body. There is a very rare form of Alpers Disease that occurs in older children and teenagers.
The course of Juvenile Alpers Disease is extended over a longer period of time.
Alpers Disease fJZe ftek;wJh BkVh-ftfrnkBe p/soshph j? fi; pko/ ftµtkµ ehsk ik_dk j? fe fJj ihto;kfJDe
d'µ ekoB j[zdh j? ns/ fi; ekoB fdwkr d/ ;c?d gdkoE dk B[e;kB ns/ ewh j[zdh j?. fJ; B
[e;kB ekoB fdwkr s'_ ;oho d/ nzrk_ ns/ fdwkr d/ nzdo'-nzdo ;zd/µ(frnkB-szs{ ;zd/µ) G/iD ftZu w[µfeb
nkT[_dh j?. tZv/ pZfunk_ ik_ feµ'ok_ ftZu nkT[D tkbh Alpers Disease dh fe;w pVh d[obZG j?. Juvenile
Alpers Disease dk ;wk_ dhox ekb sZe bzw/ok j' ik_dk j?.
Alpers Disease is passed down by an autosomal recessive mode of inheritance (please see our
inheritance leaflet for more information). However, it is likely that in some cases different patterns of
inheritance may occur. Many patients have an underlying mitochondrial disorder and recent
evidence shows that a number of patients have defects in the POLG1 gene.
j?.pj[s jh d[obZG wkwfbnk_ ftZu firo dh phwkoh fJ; phwkoh dk gfjbk bZSD j' ;edh j?.firo c/bQ j'Dk
ns/ d"o/ g?Dk fJ; p/soshph ftZu w"s dk w[ Zy ekoB j[zdk j?.fJ; p/soshph tkb/ ftnesh nkw s"o s/ f—zdrh
d/ gfjb/ djke/ s'_ tZX Bjh_ fiT[_d/.
There is no single diagnostic test for Alpers Disease. The diagnosis is usually made using a
combination of a detailed family history, clinical evaluation and a range of specialised tests. In fatal
cases a post mortem examination of the brain may be the best way to confirm the diagnosis. This
disorder may be misdiagnosed as liver failure or childhood jaundice. Unfortunately, liver
transplantation is not successful in Alpers Disease. Treatment for individuals with this disease aims
to provide relief for any symptoms and support. Stress should be avoided as it is believed that it can
intensify symptoms. Anticonvulsant drugs may be given to help prevent or control seizures. Sodium
Valproate should never be used in this disorder as it may precipitate liver failure. Other medications
may be given to relieve pain and to treat infections as appropriate. Physiotherapy may help increase
muscle tone and/or relieve any muscle contractions. Advice may be given on exercise and
positioning. Research is ongoing into using L-Carnitine and Coenzyme Q10 as possible treatments.
Alpers Disease dh e'Jh fJZe o'r fBoXkoe ik_u Bjh_ j?.o'r fBoXkoB nkw s"o s/ ft;Ekos gfotkoe
fgS'eV, f;js w[Zbk_eD ns/ ftµ/µ ik_uk_ dh fJZe bVh d/ ;w{fje nfXn?B Bkb ehsk ik_dk j?.w"s d/ wkwfbnk_
ftZu fdwkr d g';N-wkoNw(uho-ckV) o'r fBoXkoB dk p/jsohB Yzr j' ;edk j?.fJj p/soshph firo c/bQ
ik_ pugB d/ ghbhJ/ ti'_ o'r dk rbs fBoµkoB th eotk ;edh j?.pdfe;wsh Bkb Alpers Disease ftZu
firo pdbh ekw:kp Bjh_ j?.fJ; phwkoh tkb/ ftneshnk_ d/ fJbki dk we;d fe;/ soQk_ d/ th bZSDk_ s'_
nkokw ns/ ;jkfJsk d/Dk j[zdk j?.sDkns'_ puDk ukjhdk j? feT[_fe fJj wzfBnk ik_dk j? fe fJj bZSDk_ B{z
j'o tXkT[_dk j?.;zrVB fto'Xh dtkJhnk_ d"fonk_ s'_ pukn bJh fdZshnk_ ik ;edhnk_ jB. Sodium Valproate
B{z fJ; p/soshph ftZu ed/ th Bjh_ tosDk ukjhdk feT[_fe fJj firo d/ c/bQ j'D B{z T[e;kT[_dk j?.dod s'_
nkokw ns/ ;zeowD bJh :'r dtkJhnk_ fdZshnk_ ik ;edhnk_ jB. G"fse fufes;k gZfmnk_ B{z tXkT[D ns/
gZfmnk_ d/ neVkn s'_ nkokw ftu wdd d/ ;edh j?.e;os eoB ns/ nk;D pko/ ;bkj fdZsh ik e;dh j?.
L-Carnitine ns/ Coenzyme Q10 B{z ;zGt fJbki ti'_ tosD bJh y'i ehsh ik ojh j?.
Alpers Disease B{z nkN';'wb oh;?f;t fJBj?ohN?_; w'v okjh_ f;Zfyns ehsk ik_dk j?.(tX/o/ ikDekoh bJh feogk
eoe/ ;kv/ ftok;s fJµfsjko B{z t/y')Gk_t/_ fe fJj th ;zGt j? fe e[M wkwfbnk_ ftu ftok;s d/ tZyo/ Bw{B/
t/yD B{z fwbD. pj[s ;ko/ woh—k_ dk wjZstg{oB mitochondrial disorder j[zdk j? ns/ sk—k ;p{s fJj
do;kT[_d/ jB fe tZvh frDsh woh—k_ d/ POLG1 gene ihB ftZu d'µ j[zd/ jB.
Alpers Disease generally presents in early childhood. Symptoms can include a delay in physical and
mental development. Infants may not reach developmental milestones such as walking until later
than expected. Individuals may have a progressive loss of intellectual capabilities (dementia) and
usually have fits (seizures) and muscle jerks. Some individuals may have hearing difficulties or
become deaf. Other signs include a low muscle tone (hypotonia), increased muscle tension leading
to exaggerated reflexes, stiffness of the limbs (spasticity) and in some cases paralysis of all four
limbs (quadriplegia). In some cases, there may be degeneration of the optic nerve (optic atrophy)
which can lead to blindness. Liver problems usually develop later and present with jaundice (yellow
colouring of skin). Unfortunately, liver disease usually progresses to liver failure. In rare cases liver
disease may be the first sign of the disease. Liver failure and seizures are the main cause of death
in this disorder. Individuals with this disorder do not usually live beyond the first decade of life.
Alpers Disease nkw s"o s/ pugB d/ w[ ZY ftZu w"i{d j[zdk j?. bZSDk_ ftZu ;ohoe s/ wkBf;e ftek; ftZu
d/oh th µkfwb j' ;edh j?.j' ;edk j? fe pZu/ ftZek; d/ T[jBk_ whb gZEok_ fit/_ fe s[oBk nkfd B{z UBh
ibdh Bk S{j ;eD fizBh fe nk; ehsh ik_dh j?.ftneshnk_ dh p"fXe ;woEk dk gqrshwJh xkNk(vhw?_Nhnk)
th j' ;edk j? go nkw s"o s/ d"o/ g?_d/ jB ns/ gfZmnk_ d/ MNe/ wfj;{; ehs/ ik_d/ jB. e[M ftneshnk_ B
{z ;[DB dhnk_ ;wZf;nk_tk_ th j' ;edhnk_ jB ns/ T[j p'b/ th j' ;ed/ jB.j'oBk_ fuzBQk_ ftZu gZfmnk_ dk
nftef;s j'Dk (hypotonia) gZfmnk_ dk tfXnk j'fJnk fyukn fi; Bkb nkgD/ nkg gbek_ pzd j'D bZr g?
_dhnk_ jB,nzrk_ dh neVB(;gk;Nhf;Nh) s/ e[M wkwfbnk_ ftu uko/ nzrk_ dk betk (e[nkvohgb/rhnk) th
j' ;edk j?.e[M wkwfbnk_ ftZu nZyk_ d/ szs{nk_ dk nftef;s j'Dk,(UgfNe n?Nq"ch) th j' ;edk j? fi; Bkb
nzXoksk th j' ;edk j?.firo dhnk_ ;wZf;nk_tk_ nkw s"o s/ pknd ftZu ghbhJ/(uwVh dk ghbk ozr)
Bkb ;kjwD/ nkT[_dhnk_ jB.pdfe;wsh Bkb firo dh phwkoh nkw s"o s/ firo c/bQ j'D B{z ;Zdk fdzdh