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262 Possible Causes for Genetic Heterogeneity, Stiffness of the Lower Limbs

  • Hereditary Spastic Paraplegia

    […] and contraction (spasticity) in the lower limbs.[zfin.org] HSP is a clinically and genetically heterogeneous neurodegenerative disorder characterized by degeneration of the corticospinal tract motor neurons and resulting in progressive[ncbi.nlm.nih.gov] A 56-year-old man presented with progressive stiffness, weakness and ataxia in the lower limbs. Two sisters of him had similar symptoms and dysarthria.[ncbi.nlm.nih.gov]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia).[icdlist.com] In the six remaining families, absence of cDNA ALS2 mutations suggests either mutations in regulatory ALS2 regions or genetic heterogeneity, as already reported in JPLS.[ncbi.nlm.nih.gov] These disorders are characterized by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia).[ghr.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 10

    0007350 Impaired distal vibration sensation 0006886 Leg muscle stiffness 0008969 Lower limb muscle weakness Lower extremity weakness Lower limb weakness Muscle weakness in[rarediseases.info.nih.gov] Biological heterogeneity in X-linked spastic paraplegia. Am. J. hum. Genet. 41 , 933–943 (1987). 7 Harding, A.E.[nature.com] Clinical Utility of Genetic Testing for Hereditary Spastic Paraplegia Genetic testing for HSP can present challenges, due to the wide clinical and genetic heterogeneity that[dnatesting.uchicago.edu]

  • Pure Hereditary Spastic Paraplegia

    These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia).[icdlist.com] The condition is genetically heterogeneous, and loci have been mapped at chromosomes 2p, 8q, 14q, and 15q.[ncbi.nlm.nih.gov] Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms.[ncbi.nlm.nih.gov]

  • Spastic Paraplegia

    […] and contraction (spasticity) in the lower limbs, as a result of damage to or dysfunction of the nerves.[dbpedia.org] Complex forms of spastic paraplegia (SPG) are rare and genetically heterogeneous.[ncbi.nlm.nih.gov] HSP is a clinically and genetically heterogeneous disorder of the upper motor neurons. Symptoms beginning in early childhood may resemble spastic cerebral palsy.[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 1H

    limb Abnormal urinary color Pain X-linked recessive inheritance Hypoglycemia Hyperlordosis Muscle stiffness Exercise-induced myalgia Heterogeneous Exercise-induced myoglobinuria[mendelian.co] Our findings further expand the clinical and genetic heterogeneity of LGMDs.[moh-it.pure.elsevier.com] Abstract : The limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder[hal.archives-ouvertes.fr]

  • Autosomal Recessive Spastic Paraplegia Type 26

    […] and contraction ( spasticity ) in the lower limbs with eventual paralysis , · ][psychology.wikia.com] For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). (609195) Disease Ontology : 12 A hereditary spastic paraplegia that has material[malacards.org] Clinical Utility of Genetic Testing for Hereditary Spastic Paraplegia Genetic testing for HSP can present challenges, due to the wide clinical and genetic heterogeneity that[dnatesting.uchicago.edu]

  • Autosomal Dominant Spastic Paraplegia Type 17

    SPG4 is caused by mutations in the SPAST gene. 0006938 Leg muscle stiffness 0008969 Lower limb muscle weakness Lower extremity weakness Lower limb weakness Muscle weakness[rarediseases.info.nih.gov] heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. ( 17663003 ) Rohkamm B....Auer-Grumbach M. 2007 43 Identification of de novo[malacards.org] These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia).[ghr.nlm.nih.gov]

  • Distal Hereditary Motor Neuropathy

    Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs.[ncbi.nlm.nih.gov] Abstract The distal hereditary motor neuropathies (distal HMN) are clinically and genetically heterogeneous and are subdivided in seven subtypes according to the mode of inheritance[ncbi.nlm.nih.gov] Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of disorders.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 42

    […] and contraction ( spasticity ) in the lower limbs with eventual paralysis, · ][psychology.wikia.com] Abstract: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower extremity weakness and[deepblue.lib.umich.edu] Autosomal dominant spastic paraplegia: refined SPG8 locus and further genetic heterogeneity. Neurology 53:1844-9.[ereidlab.wordpress.com]

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