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Items: 1 to 20 of 62

1.

Spastic

of relating to spasm [from CHV]

MedGen UID:
141050
Concept ID:
C0443306
Mental or Behavioral Dysfunction; Sign or Symptom
2.

Spastic paraplegia

Spasticity and weakness of the leg and hip muscles. [from HPO]

MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
3.

Spastic paraplegia type 7

A form of hereditary spastic paraplegia with onset usually in adulthood of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. [from SNOMEDCT_US]

MedGen UID:
777978
Concept ID:
C3711370
Disease or Syndrome
4.

Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation

This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy (Hogan and Bauman, 1977). [from OMIM]

MedGen UID:
376528
Concept ID:
C1849156
Disease or Syndrome
5.

Paraplegia, Ataxic

MedGen UID:
116129
Concept ID:
C0242036
Sign or Symptom
6.

Paraplegia

Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness. [from MeSH]

MedGen UID:
45323
Concept ID:
C0030486
Disease or Syndrome
7.

Ataxia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [from HPO]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
8.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
9.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
10.

Friedreich ataxia

Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes. [from GeneReviews]

MedGen UID:
5276
Concept ID:
C0016719
Disease or Syndrome
11.

Hereditary ataxia

The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur. [from GeneReviews]

MedGen UID:
2478
Concept ID:
C0004138
Disease or Syndrome
12.

Late onset

A type of adult onset with onset of symptoms after the age of 60 years. [from HPO]

MedGen UID:
871123
Concept ID:
C4025592
Qualitative Concept
13.

Spastic ataxia

MedGen UID:
832986
Concept ID:
CN228399
Disease or Syndrome
14.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
15.

Spastic ataxia

MedGen UID:
505254
Concept ID:
CN002268
Finding
16.

Mode of inheritance

The manner in which a genetic trait or disorder is passed from one generation to the next. Autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, multifactorial, and mitochondrial inheritance are examples. Each mode of inheritance results in a characteristic pattern of affected and unaffected family members. [from NCI]

MedGen UID:
353811
Concept ID:
C1708511
Functional Concept
17.

Spastic paraplegia 7

Spastic paraplegia 7 (SPG7) is characterized by insidiously progressive bilateral lower limb weakness and spasticity. Most affected individuals have proximal or generalized weakness in the legs and impaired vibration sense. Onset is mostly in adulthood, although symptoms may start as early as age 11 years and as late as age 72 years. Additional features such as hyperreflexia in the arms, sphincter disturbances, spastic dysarthria, dysphagia, pale optic disks, ataxia, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, and amyotrophy may be observed. [from GeneReviews]

MedGen UID:
339552
Concept ID:
C1846564
Disease or Syndrome
18.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
19.

Spastic paraplegia

MedGen UID:
335468
Concept ID:
C1846589
Finding
20.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
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