The history of progressive muscular atrophy

@article{Visser2008TheHO,
  title={The history of progressive muscular atrophy},
  author={Jeldican Visser and Jody M de Jong and M. Visser},
  journal={Neurology},
  year={2008},
  volume={70},
  pages={723 - 727}
}
Since its first description more than a century ago, there has been much debate about the diagnostic entity progressive muscular atrophy (PMA). Initially, PMA included all forms of progressive amyotrophy. With the identification of several myogenic and neurogenic diseases and the recognition of amyotrophic lateral sclerosis (ALS), PMA was deemed to disappear as a nosologic entity at the end of the 19th century. In the last century, various other lower motor neuron syndromes were distinguished… 
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TLDR
Patients with lower motor neuron syndromes and a disease duration of at least 4 years usually have a favorable prognosis if muscle involvement has a segmental distribution, and in patients with a generalized phenotype, progression is relentlessly progressive and eventually leads to death due to respiratory insufficiency.
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  • Medicine
    Neuropathology : official journal of the Japanese Society of Neuropathology
  • 2015
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References

SHOWING 1-10 OF 77 REFERENCES
AMYOTROPHIC LATERAL SCLEROSIS: A Clinicoanatomic Study of Fifty-Three Cases
MODERN interest in amyotrophic lateral sclerosis stems from the pioneer publications of Duchenne 1 and Aran, 2 in which progressive spinal muscular atrophy was described and its muscular origin
A case of juvenile muscular atrophy confined to one upper limb.
TLDR
A 25-year-old woman with unilateral paresis and atrophy of the muscles of the right arm and shoulder is described, it is to be expected that the pathological anatomical features will resemble those described by Marie and Foix as tephromalacia.
Mimic syndromes in sporadic cases of progressive spinal muscular atrophy
TLDR
Patients initially diagnosed with progressive spinal muscular atrophy (PSMA), in whom further evaluation established another diagnosis, are described, in whom a potential treatment was available: multifocal motor neuropathy, chronic inflammatory demyelinating polyneuropathy, inflammatory myopathy, and MG.
Benign focal amyotrophy. Variant of chronic spinal muscular atrophy.
TLDR
A man whose condition clinically fit the description of benign focal amyotrophy was examined and some evidence suggestive of a more diffuse motor neuron disease was found.
Progressive proximal spinal and bulbar muscular atrophy of late onset
TLDR
The question of diagnosis is answered by examining the X chromosome and finding expanded cytosine, adenosine, and guanine (CAG) repeats encoding a polyglutamine tract of the androgen receptor protein, similar to CAG repeats of four other degenerative diseases of late onset that affect specific cell types.
CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
TLDR
The classification of the spinal muscular atrophies presented provides the differential diagnosis for newly presenting cases and identifies seven different SMA syndromes; thirteen mutant genes are incriminated.
CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
TLDR
Clinical heterogeneity within the spinal muscular atrophies (SMA) has long been a source of confusion for questions of prognosis and genetic counselling but comprehensive clinical and genetic analyses of 240 consecutive index cases have enabled some nosological questions to be resolved.
Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS
TLDR
A patient presenting with PMA with rapid clinical evolution likely has the pathology and pathophysiology of ALS whether or not upper motor neuron signs evolve.
Juvenile type of distal and segmental muscular atrophy of upper extremities
TLDR
Clinical features consisted of juvenile onset, male preponderance, unique distribution of the muscular atrophy in the hand and forearm, tendon reflexes hypoactive in most cases but hyperactive in some, no definite sensory disturbances, no involvement of the cranial nerves, and autonomic nerve disorders in the affected region.
Benign calf amyotrophy: clinicopathologic study of 8 patients.
TLDR
Benign calf amyotrophy is a variant of the benign focal amyot rophy disorders, and the electromyographic and muscle histopathologic findings were consistent with a chronic neuropathic disorder.
...
1
2
3
4
5
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