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Distal amyotrophy

Known as: Distal muscular atrophy, Muscle atrophy, distal, upper and lower limbs, Distal amyotrophy, especially of the hands and feet 
Muscular atrophy affecting muscles in the distal portions of the extremities. [HPO:curators]
National Institutes of Health

Related topics

Related topics

36 relations
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)AMYOTROPHIC LATERAL SCLEROSIS 5ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)Amyotrophic Lateral Sclerosis 4, Juvenile

Papers overview

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Highly Cited
2010
Highly Cited
2010
Early Origin for Human-Like Precision Grasping: A Comparative Study of Pollical Distal Phalanges in Fossil Hominins
Background The morphology of human pollical distal phalanges (PDP) closely reflects the adaptation of human hands for refined… 
Highly Cited
2008
Highly Cited
2008
Sacsinopathies: Sacsin-related ataxia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was originally found among inhabitants of the Charlevoix… 
Review
2007
Review
2007
Molecular genetics of X-linked Charcot-Marie-Tooth disease
The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common molecularly designated form of hereditary… 
Highly Cited
2001
Highly Cited
2001
Juvenile muscular atrophy of the distal upper limb (Hirayama disease) associated with atopy
Juvenile muscular atrophy of the distal upper limb (Hirayama disease) is a rare disease predominantly affecting the anterior horn… 
Highly Cited
2000
Highly Cited
2000
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)
OBJECTIVES AND METHODS Seven families were studied with an axonal form of Charcot-Marie-Tooth disease (CMT) associated with… 
Highly Cited
1999
Highly Cited
1999
Distal axonopathy in peripheral nerves of PMP22-mutant mice.
A partial duplication of chromosome 17 is associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating peripheral… 
1998
1998
Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant peripheral neuropathy characterized by slow progressive distal… 
Highly Cited
1997
Highly Cited
1997
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
Charcot-Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle… 
Highly Cited
1996
Highly Cited
1996
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
Abstract Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is… 
Review
1967
Review
1967
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting.
FAMILIAL spastic paraplegia was first reported by Seeligmuller, 1 and many additional cases have since been reported (see reviews… 
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