出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/04/05 17:44:57」(JST)
| Progressive muscular atrophy | |
|---|---|
| Classification and external resources | |
| ICD-9-CM | 335.21 |
| DiseasesDB | 29149 |
| MeSH | D009134 |
|
[edit on Wikidata]
|
|
Progressive muscular atrophy (PMA), also known as Duchenne-Aran muscular atrophy and by various other names, is a rare subtype of motor neuron disease (MND) that affects only the lower motor neurons. PMA is thought to account for around 4% of all MND cases.[1] This is in contrast to amyotrophic lateral sclerosis (ALS), the most common form of MND, which affects both the upper and lower motor neurones, or primary lateral sclerosis, another rare MND variant, which affects only the upper motor neurons. The distinction is important because PMA is associated with a better prognosis than classic ALS.
Despite being rarer than ALS, PMA was described earlier, when in 1850 French neurologist François Aran (English /ɑːˈrɑːn/) described 11 cases which he termed atrophie musculaire progressive. Contemporary neurologist Guillaume-Benjamin-Amand Duchenne de Boulogne English /duːˈʃɛn/ also claimed to have described the condition 1 year earlier, although the written report was never found.[2] The condition has been called progressive muscular atrophy (PMA),[3] spinal muscular atrophy (SMA),[3] Aran–Duchenne disease,[2][3] Duchenne–Aran disease,[2] Aran–Duchenne muscular atrophy,[3] and Duchenne–Aran muscular atrophy. The name "spinal muscular atrophy" is ambiguous as it refers to any of various spinal muscular atrophies, including the autosomal recessive spinal muscular atrophy caused by a genetic defect in the SMN1 gene.
As a result of lower motor neurone degeneration, the symptoms of PMA include:
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 "Flail Arm" (FA) or "Flail Leg" (FL) and are associated with a better prognosis.[1]
In contrast to amyotrophic lateral sclerosis or primary lateral sclerosis, PMA is distinguished by the absence of:
PMA is a diagnosis of exclusion, 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 multifocal motor neuropathy or spinal muscular atrophy. Tests used in the diagnostic process include MRI, clinical examination, and EMG. EMG tests in patients who do have PMA usually show denervation (neurone death) in most affected body parts, and in some unaffected parts too.[4]
It typically takes longer to be diagnosed with PMA than ALS, an average of 20 months for PMA vs 15 months in ALS/MND.
The importance of correctly recognizing progressive muscular atrophy as opposed to ALS is important for several reasons.
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 neurone symptoms such as brisk reflexes, spasticity, or a Babinski sign would indicate a progression to ALS; the correct diagnosis is also occasionally made on autopsy.[6][7]
Since its initial description in 1850, there has been debate in the scientific literature over whether PMA is a distinct disease with its own characteristics, or if lies somewhere on a spectrum with ALS, PLS, and PBP. Jean-Martin Charcot, who first described ALS in 1870, felt that PMA was a separate condition, with degeneration of the lower motor neurones the most important lesion, whereas in ALS it was the upper motor neurone degeneration that was primary, with lower motor neurone 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 muscular atrophy, progressive myopathy, progressive muscular dystrophy, peripheral neuritis, and syringomyelia.[2]
The neurologists Joseph Jules Dejerine and William Richard Gowers were among those who felt that PMA was part of a spectrum of "motor neurone disease" 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 upper motor neurons appear unaffected on clinical examination there are in fact detectable pathological signs of upper motor neuron damage on autopsy.[2]
Also, no gene has been linked specifically to PMA, and the disorder does not appear in the OMIM database.
In favour of considering PMA a separate disease, some patients with PMA live for decades after diagnosis, which would be unusual in typical ALS.[2]
To this day, terminology around these diseases remains confusing because in the United Kingdom motor neurone disease refers to both ALS specifically and to the spectrum of ALS, PMA, PLS, and PBP. In the United States the most common terms are ALS (both specifically for ALS and as a blanket term) or Lou Gehrig's disease.
Pathology of the nervous system, primarily CNS (G04–G47, 323–349)
|
|||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Inflammation |
|
||||||||||||||||||||||||||||||||||||||||||
| Brain/ encephalopathy |
|
||||||||||||||||||||||||||||||||||||||||||
| Spinal cord/ myelopathy |
|
||||||||||||||||||||||||||||||||||||||||||
| Both/either |
|
||||||||||||||||||||||||||||||||||||||||||
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
| リンク元 | 「進行性筋萎縮」「distal spinal muscular atrophy」「PMA」「進行性筋萎縮症」 |
| 拡張検索 | 「spinal progressive muscular atrophy」 |
| 関連記事 | 「muscular」「progressive」「atrophy」 |