40:
369:, who first described ALS in 1870, felt that PMA was a separate condition, with degeneration of the lower motor neurons the most important lesion, whereas in ALS it was the upper motor neuron degeneration that was primary, with lower motor neuron degeneration being secondary. Such views still exist in archaic terms for PMA such as "Primary progressive spinal muscular atrophy". Throughout the course of the late 19th century, other conditions were discovered which had previously been thought to be PMA, such as pseudo-hypertrophic paralysis, hereditary
328:
also claimed to have described the condition 1 year earlier, although the written report was never found. The condition has been called progressive muscular atrophy (PMA), spinal muscular atrophy (SMA), AranâDuchenne disease, DuchenneâAran disease, AranâDuchenne muscular atrophy, and
DuchenneâAran
255:
or local healthcare policies may not recognize PMA as being the life-changing illness that it is. In cases where being classified as being PMA rather than ALS is likely to restrict access to services, it may be preferable to be diagnosed as "slowly progressive ALS" or "lower
654:
Tsuchiya K, Sano M, Shiotsu H, Akiyama H, Watabiki S, Taki K, Kondo H, Nakano I, Ikeda K (Sep 2004). "Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy exists: additional autopsy case with a clinical course of 19 years".
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An initial diagnosis of PMA could turn out to be slowly progressive ALS many years later, sometimes even decades after the initial diagnosis. The occurrence of upper motor neuron symptoms such as brisk reflexes, spasticity, or a
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which included ALS, PMA, and PBP, in part because it was almost impossible to distinguish the conditions at autopsy. Other researchers have suggested that PMA is just ALS in an earlier stage of progression, because although the
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Visser J, de Visser M, Van den Berg-Vos RM, Van den Berg LH, Wokke JH, de Jong JM, Franssen H (May 2008). "Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy".
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Ince PG, Evans J, Knopp M, Forster G, Hamdalla HH, Wharton SB, Shaw PJ (Apr 2003). "Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS".
153:, there is no specific test which can conclusively establish whether a patient has the condition. Instead, a number of other possibilities have to be ruled out, such as
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Wicks P, Abrahams S, Leigh PN, Williams T, Goldstein LH (Nov 2006). "Absence of cognitive, behavioral, or emotional dysfunction in progressive muscular atrophy".
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Wijesekera LC, Mathers S, Talman P, Galtrey C, Parkinson MH, Ganesalingam J, Willey E, Ampong MA, Ellis CM, Shaw CE, Al-Chalabi A, Leigh PN (Mar 2009).
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109:, another MND, which affects only the upper motor neurons. The distinction is important because PMA is associated with a better prognosis than ALS.
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In favour of considering PMA a separate disease, some patients with PMA live for decades after diagnosis, which would be unusual in typical ALS.
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173:. EMG tests in patients who do have PMA usually show denervation (neuron death) in most affected body parts, and in some unaffected parts too.
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Some patients have symptoms restricted only to the arms or legs (or in some cases just one of either). These cases are referred to as
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appear unaffected on clinical examination there are in fact detectable pathological signs of upper motor neuron damage on autopsy.
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The importance of correctly recognizing progressive muscular atrophy as opposed to ALS is important for several reasons.
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Visser J, de Jong JM, de Visser M (Feb 2008). "The history of progressive muscular atrophy: Syndrome or disease?".
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It typically takes longer to be diagnosed with PMA than ALS, an average of 20 months for PMA vs 15 months in ALS.
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muscular atrophy. The name "spinal muscular atrophy" is ambiguous as it refers to any of various
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would indicate a progression to ALS; the correct diagnosis is also occasionally made on autopsy.
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World
Federation of Neurology El Escorial Research Criteria for "Definite" or "Probable" ALS
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Despite being rarer than ALS, PMA was described earlier, when in 1850 French neurologist
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The 5-year survival rate has been estimated at 33% and the 10-year survival rate at 12%.
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in PMA to be 33% (vs 20% in ALS) and the 10-year survival rate to be 12% (vs 6% in ALS).
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refers to both ALS specifically and to the spectrum of ALS, PMA, PLS, and PBP. In the
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Because of its rarity (even compared to ALS) and confusion about the condition, some
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521:"Natural history and clinical features of the flail arm and flail leg ALS variants"
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To this day, terminology around these diseases remains confusing because in the
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has been linked specifically to PMA, and the disorder does not appear in the
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As a result of lower motor neuron degeneration, the symptoms of PMA include:
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461:- Entertainer and sideshow performer, billed as "the living human skeleton".
141:(either flail arm or flail leg) and are associated with a better prognosis.
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Because PMA patients do not have UMN signs, they usually do not meet the
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86:(MND) where it is thought to account for around 4% of all MND cases.
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Since its initial description in 1850, there has been debate in the
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Spinal muscular atrophy with lower extremity predominance (SMALED)
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The prognosis is a little better. A recent study found the 5-year
79:, resulting in generalised, progressive loss of muscle function.
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were among those who felt that PMA was part of a spectrum of
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and so are ineligible to participate in the majority of
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75:, is a disorder characterised by the degeneration of
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97:(ALS), the most common MND, which affects both the
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237:identified in certain groups of patients with MND.
161:. Tests used in the diagnostic process include
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295:Guillaume-Benjamin-Amand Duchenne de Boulogne
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808:Dorland's Illustrated Medical Dictionary
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1696:Distal hereditary motor neuronopathies
1369:Template:Demyelinating diseases of CNS
31:
7:
1547:Idiopathic intracranial hypertension
441:(both specifically for ALS and as a
333:, including the autosomal recessive
289:described 11 cases which he termed
1778:Infantile progressive bulbar palsy
766:10.1212/01.wnl.0000302187.20239.93
712:10.1212/01.wnl.0000058901.75728.4e
625:10.1212/01.wnl.0000242726.36625.f3
537:10.1212/01.wnl.0000345041.83406.a2
337:caused by a genetic defect in the
233:Patients with PMA do not have the
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1830:Unsolved problems in neuroscience
1481:Template:Cerebrovascular diseases
1284:Frontotemporal lobar degeneration
1501:For more detailed coverage, see
1479:For more detailed coverage, see
1450:For more detailed coverage, see
1416:For more detailed coverage, see
1367:For more detailed coverage, see
669:10.1111/j.1440-1789.2004.00546.x
301:
38:
30:DuchenneâAran muscular atrophy,
291:atrophie musculaire progressive
379:progressive muscular dystrophy
192:, PMA is distinguished by the
73:DuchenneâAran muscular atrophy
1:
1794:Amyotrophic lateral sclerosis
1679:Hereditary spastic paraplegia
1537:Normal pressure hydrocephalus
186:amyotrophic lateral sclerosis
95:amyotrophic lateral sclerosis
1763:Progressive muscular atrophy
61:Progressive muscular atrophy
22:Progressive muscular atrophy
1273:Primary progressive aphasia
293:. Contemporary neurologist
155:multifocal motor neuropathy
1846:
1595:Hashimoto's encephalopathy
1301:Posterior cortical atrophy
1122:Striatonigral degeneration
973:Cavernous sinus thrombosis
437:the most common terms are
1701:Spinal muscular atrophies
1669:Primary lateral sclerosis
1527:Intracranial hypertension
1307:CreutzfeldtâJakob disease
582:10.1007/s00415-008-0813-y
471:rugby league captain and
331:spinal muscular atrophies
190:primary lateral sclerosis
107:primary lateral sclerosis
37:
1768:Progressive bulbar palsy
1559:Intracranial hypotension
1542:Choroid plexus papilloma
956:Herpesviral encephalitis
82:PMA is classified among
1280:Frontotemporal dementia
966:Encephalitis lethargica
335:spinal muscular atrophy
159:spinal muscular atrophy
1585:Hepatic encephalopathy
398:William Richard Gowers
180:Differential diagnosis
151:diagnosis of exclusion
1825:Motor neuron diseases
1643:Ataxiaâtelangiectasia
1600:Static encephalopathy
1323:Mitochondrial disease
1161:Spasmodic torticollis
1071:Basal ganglia disease
431:motor neurone disease
394:Joseph Jules Dejerine
351:scientific literature
89:PMA affects only the
84:motor neuron diseases
69:DuchenneâAran disease
1590:Toxic encephalopathy
1296:Lewy bodies dementia
447:Lou Gehrig's disease
402:motor neuron disease
375:progressive myopathy
167:clinical examination
1638:Friedreich's ataxia
1021:Meningoencephalitis
961:Limbic encephalitis
407:upper motor neurons
367:Jean-Martin Charcot
345:Disease or syndrome
91:lower motor neurons
77:lower motor neurons
1674:Pseudobulbar palsy
1412:Status epilepticus
1363:Multiple sclerosis
1200:Myoclonic epilepsy
1063:movement disorders
1009:Acute disseminated
951:Viral encephalitis
253:insurance policies
217:emotional lability
113:Signs and symptoms
105:motor neurons, or
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1452:Template:Headache
1418:Template:Epilepsy
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1313:Vascular dementia
1156:Status dystonicus
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1004:Encephalomyelitis
882:
881:
531:(12): 1087â1094.
392:The neurologists
260:predominant" ALS.
248:conducted in ALS.
93:, in contrast to
58:
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16:Medical condition
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1617:
1575:Brain herniation
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1226:Intention tremor
1221:Essential tremor
1086:Postencephalitic
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915:Diseases of the
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706:(8): 1252â1258.
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459:Isaac W. Sprague
371:muscular atrophy
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235:cognitive change
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1497:Sleep disorders
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1462:Cerebrovascular
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492:football player
482:Rob Rensenbrink
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246:clinical trials
212:Babinski's sign
184:In contrast to
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122:muscle weakness
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67:), also called
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828:Classification
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657:Neuropathology
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1127:Hemiballismus
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469:Great Britain
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453:Notable cases
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280:
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25:
20:
1788:
1762:
1687:
1660:
1621:Degenerative
1358:Inflammatory
1305:
1238:Stiff-person
1076:Parkinsonism
1049:Degenerative
946:Encephalitis
929:Inflammation
919:, primarily
866:
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465:Mike Gregory
446:
443:blanket term
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258:motor neuron
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88:
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1773:FazioâLonde
1613:Both/either
1407:Generalised
1266:Early-onset
1261:Alzheimer's
996:spinal cord
811:, Elsevier.
486:Netherlands
27:Other names
1819:Categories
1381:paroxysmal
1353:Autoimmune
1146:Dyskinesia
1016:Meningitis
994:Brain and
868:DiseasesDB
497:References
490:Anderlecht
477:Wigan RLFC
473:head coach
420:database.
207:spasticity
139:flail limb
1378:Episodic/
1256:Tauopathy
1207:Akathisia
1195:Myoclonus
1178:Athetosis
1110:Tauopathy
754:Neurology
700:Neurology
613:Neurology
598:189864430
570:J. Neurol
525:Neurology
484:- Former
467:- Former
412:Also, no
299:English:
273:Prognosis
149:PMA is a
145:Diagnosis
53:Neurology
48:Specialty
1744:SMALED2B
1739:SMALED2A
1436:Migraine
1428:Headache
1394:epilepsy
1390:Seizures
1248:Dementia
1151:Dystonia
803:Elsevier
782:22629725
774:18299524
728:39178055
720:12707426
685:41349226
677:15484701
641:34610667
633:17101922
590:18484238
555:19307543
383:neuritis
202:reflexes
1756:SMA-PME
1751:SMA-PCH
1734:SMALED1
1446:Tension
1441:Cluster
1166:Meige's
983:Amoebic
862:D009134
546:2821838
281:History
194:absence
1475:Stroke
1289:Pick's
1216:Tremor
1183:Chorea
851:335.21
780:
772:
726:
718:
683:
675:
639:
631:
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588:
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543:
385:, and
361:, and
341:gene.
200:brisk
169:, and
32:others
1789:both:
1721:DSMA1
1716:SMAX2
1711:SMAX1
1691:only:
1664:only:
1568:Other
1490:Other
1402:Focal
1035:Brain
938:Brain
873:29149
778:S2CID
724:S2CID
681:S2CID
637:S2CID
594:S2CID
445:) or
103:lower
99:upper
1392:and
1103:PKAN
1098:NBIA
857:MeSH
846:9-CM
770:PMID
716:PMID
673:PMID
629:PMID
586:PMID
551:PMID
488:and
418:OMIM
414:gene
396:and
339:SMN1
196:of:
101:and
71:and
1706:SMA
1689:LMN
1662:UMN
1653:MND
1519:CSF
1470:TIA
1115:PSP
1091:NMS
1060:and
921:CNS
842:ICD
762:doi
708:doi
665:doi
621:doi
578:doi
574:255
541:PMC
533:doi
475:at
439:ALS
363:PBP
359:PLS
355:ALS
188:or
171:EMG
163:MRI
157:or
65:PMA
1821::
1630:SA
1137:OA
1132:HD
1081:PD
871::
860::
849::
805:,
790:^
776:.
768:.
758:70
756:.
736:^
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702:.
679:.
671:.
661:24
659:.
635:.
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529:72
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505:^
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377:,
373:,
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357:,
309:uË
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1282:/
1037:/
908:e
901:t
894:v
844:-
834:D
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623::
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580::
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324:/
321:n
318:É
315:Ę
312:Ë
306:d
303:/
63:(
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