spastická paraplegie dědičná [Spastic Paraplegia, Hereditary]
- Termíny
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autozomálně dominantní dědičná spastická paraplegie
autozomálně recesivní dědičná spastická paraplegie
dědičná motorická a smyslová neuropatie
dědičná motorická a smyslová neuropatie V
dědičná motoricko-senzorická paraplegie
dědičná recesivní spastická paraplegie vázaná na chromozom X
dědičná spastická paraplegie vázaná na chromozom X
HMSN 5
hypertrofická motoricko-senzorická neuropaticko-spastická paraplegie
spastická paraplegie, typ 2
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Autosomal Dominant Hereditary Spastic Paraplegia
Autosomal Dominant Spastic Paraplegia Hereditary
Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Spastic Paraplegia
Autosomal Recessive Spastic Paraplegia, Hereditary
Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant
CMT with Pyramidal Features
Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Recessive Spastic Paraplegia
Hereditary Motor and Sensory Neuropathy 5
Hereditary Motor And Sensory Neuropathy V
Hereditary Motor-Sensory Neuropathy with Pyramidal Signs
Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia, Autosomal Recessive
Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary, Spastic Paraplegia, Autosomal Dominant
Hereditary, Spastic Paraplegia, X-Linked Recessive
HMSN 5
HMSN Type V
HMSN V
HMSN V (Hereditary Motor and Sensory Neuropathy Type V)
Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia
Paraplegia, Spastic, Hereditary
Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant
Spastic Paraplegia 2
Spastic Paraplegia Type 2
Spastic Paraplegia Type 5A, Recessive
Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy
Spastic Paraplegia, Autosomal Dominant, Hereditary
Spastic Paraplegia, Autosomal Recessive, Hereditary
Spastic Paraplegia, Hereditary, Autosomal Dominant
Spastic Paraplegia, Hereditary, Autosomal Recessive
Spastic Paraplegia, Hereditary, X-Linked Recessive
Spastic Paraplegia, X-Linked Recessive, Hereditary
Type V Hereditary Motor and Sensory Neuropathy
X Linked Recessive Hereditary Spastic Paraplegia
X-linked Recessive Hereditary Spastic Paraplegia
X-Linked, Spastic Paraplegia, Hereditary
Skupina dědičných onemocnění, která sdílejí podobné fenotypy, ale jsou geneticky odlišné. Byly identifikovány různé genetické lokusy pro autosomálně recesivní, autozomálně dominantní a na chromozom X vázané formy dědičných spastických paraplegií. Klinicky se u pacientů vyskytuje pomalá progresivní distální slabost končetin a spasticita dolních končetin. Periferní senzorické neurony mohou být ovlivněny v pozdějších stadiích onemocnění.
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
- Anotace
- coordinate with GENES, DOMINANT or GENES, RECESSIVE if discussed
- kombinuj s deskriptory GENY DOMINANTNÍ nebo GENY RECESIVNÍ, pokud se o nich hovoří
- DUI
- D015419 MeSH Prohlížeč
- CUI
- M0023769
- Předchozí užití
- Muscle Spasticity/genetics (1975-1988); Paraplegia/genetics (1966-1988)
- Historická pozn.
- 1991(1989)
- Veřejná pozn.
- 1991; see NEUROPATHIES, HEREDITARY MOTOR AND SENSORY 1989-1990
Povolená podhesla
- CI
- chemicky indukované
- SU
- chirurgie
- HI
- dějiny
- DG
- diagnostické zobrazování 2
- DI
- diagnóza 6
- DH
- dietoterapie
- EC
- ekonomika
- EM
- embryologie
- EN
- enzymologie
- EP
- epidemiologie
- ET
- etiologie
- EH
- etnologie 2
- DT
- farmakoterapie
- GE
- genetika 19
- IM
- imunologie
- CL
- klasifikace 1
- CO
- komplikace 1
- BL
- krev
- ME
- metabolismus
- MI
- mikrobiologie
- UR
- moč
- MO
- mortalita
- CF
- mozkomíšní mok
- NU
- ošetřování
- PS
- parazitologie
- PP
- patofyziologie 2
- PA
- patologie 3
- PC
- prevence a kontrola
- PX
- psychologie
- RT
- radioterapie
- RH
- rehabilitace
- TH
- terapie 2
- VE
- veterinární
- VI
- virologie
Amyotrophic Dystonic Paraplegia Disease MeSH Prohlížeč
Arena syndrome Disease MeSH Prohlížeč
Ataxia, Spastic, 1, Autosomal Dominant Disease MeSH Prohlížeč
Ataxia, Spastic, 2, Autosomal Recessive Disease MeSH Prohlížeč
Ataxia, Spastic, 3, Autosomal Recessive Disease MeSH Prohlížeč
Bahemuka Brown syndrome Disease MeSH Prohlížeč
Costeff optic atrophy syndrome Disease MeSH Prohlížeč
Fitzsimmons Walson Mellor syndrome Disease MeSH Prohlížeč
Fitzsimmons-Guilbert syndrome Disease MeSH Prohlížeč
Fitzsimmons-McLachlan-Gilbert syndrome Disease MeSH Prohlížeč
Hereditary spastic paralysis, infantile onset ascending Disease MeSH Prohlížeč
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia Disease MeSH Prohlížeč
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity Disease MeSH Prohlížeč
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome Disease MeSH Prohlížeč
MAST Syndrome Disease MeSH Prohlížeč
Mental retardation spasticity ectrodactyly Disease MeSH Prohlížeč
Nakamura Osame syndrome Disease MeSH Prohlížeč
Roy Maroteaux Kremp syndrome Disease MeSH Prohlížeč
Spastic Paraplegia 18, Autosomal Recessive Disease MeSH Prohlížeč
Spastic Paraplegia 27, Autosomal Recessive Disease MeSH Prohlížeč
Spastic Paraplegia 31, Autosomal Dominant Disease MeSH Prohlížeč
Spastic Paraplegia 32, Autosomal Recessive Disease MeSH Prohlížeč
Spastic Paraplegia 33, Autosomal Dominant Disease MeSH Prohlížeč
Spastic Paraplegia 34, X-Linked Disease MeSH Prohlížeč
Spastic Paraplegia 36, Autosomal Dominant Disease MeSH Prohlížeč
Spastic Paraplegia 37, Autosomal Dominant Disease MeSH Prohlížeč
Spastic Paraplegia 38, Autosomal Dominant Disease MeSH Prohlížeč
Spastic Paraplegia 39, Autosomal Recessive Disease MeSH Prohlížeč
Spastic Paraplegia 42, Autosomal Dominant Disease MeSH Prohlížeč
Spastic Paraplegia 44, Autosomal Recessive Disease MeSH Prohlížeč
Spastic Paraplegia 5a, Autosomal Recessive Disease MeSH Prohlížeč
Spastic Paraplegia 7, Autosomal Recessive Disease MeSH Prohlížeč
Spastic Paraplegia And Evans Syndrome Disease MeSH Prohlížeč
Spastic Paraplegia Type 4 Disease MeSH Prohlížeč
Spastic Paraplegia Type 7 Disease MeSH Prohlížeč
Spastic Paraplegia Type 8 Disease MeSH Prohlížeč
Spastic Paraplegia With Associated Extrapyramidal Signs Disease MeSH Prohlížeč
Spastic Paraplegia With Myoclonic Epilepsy Disease MeSH Prohlížeč
Spastic Paraplegia, Optic Atrophy, And Dementia Disease MeSH Prohlížeč
Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal Disease MeSH Prohlížeč
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy Disease MeSH Prohlížeč
Spastic Paraplegia-50, Autosomal Recessive Disease MeSH Prohlížeč
Spastic diplegia infantile type Disease MeSH Prohlížeč
Spastic paraplegia 10, autosomal dominant Disease MeSH Prohlížeč
Spastic paraplegia 11, autosomal recessive Disease MeSH Prohlížeč
Spastic paraplegia 12, autosomal dominant Disease MeSH Prohlížeč
Spastic paraplegia 13, autosomal dominant Disease MeSH Prohlížeč
Spastic paraplegia 14, autosomal recessive Disease MeSH Prohlížeč
Spastic paraplegia 15, autosomal recessive Disease MeSH Prohlížeč
Spastic paraplegia 16, X-linked Disease MeSH Prohlížeč
Spastic paraplegia 17 Disease MeSH Prohlížeč
Spastic paraplegia 19, autosomal dominant Disease MeSH Prohlížeč
Spastic paraplegia 2, X-linked Disease MeSH Prohlížeč
Spastic paraplegia 20, autosomal recessive Disease MeSH Prohlížeč
Spastic paraplegia 23 Disease MeSH Prohlížeč
Spastic paraplegia 24 Disease MeSH Prohlížeč
Spastic paraplegia 25, autosomal recessive Disease MeSH Prohlížeč
Spastic paraplegia 26, autosomal recessive Disease MeSH Prohlížeč
Spastic paraplegia 29, autosomal dominant Disease MeSH Prohlížeč
Spastic paraplegia 3, autosomal dominant Disease MeSH Prohlížeč
Spastic paraplegia 4, autosomal dominant Disease MeSH Prohlížeč
Spastic paraplegia 6, autosomal dominant Disease MeSH Prohlížeč
Spastic paraplegia 9, autosomal dominant Disease MeSH Prohlížeč
Spastic paraplegia epilepsy mental retardation Disease MeSH Prohlížeč
Spastic paraplegia neuropathy poikiloderma Disease MeSH Prohlížeč
Spastic paraplegia type 5B, recessive Disease MeSH Prohlížeč
Spastic paraplegia with Kallmann syndrome Disease MeSH Prohlížeč
Spastic paraplegia with precocious puberty Disease MeSH Prohlížeč
Volcke Soekarman syndrome Disease MeSH Prohlížeč