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Results: 1 to 20 of 42

1.

Spastic

of relating to spasm [from CHV]

MedGen UID:
141050
Concept ID:
C0443306
Sign or Symptom
2.

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
3.

Paraplegia

Severe or complete weakness of both lower extremities with sparing of the upper extremities. [from HPO]

MedGen UID:
506382
Concept ID:
CN009381
Finding
4.

Spastic paraplegia 3

Spastic paraplegia 3A (SPG3A) is a hereditary spastic paraplegia (HSP) characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs, diminished vibration sense caused by degeneration of the corticospinal tracts and dorsal columns, and urinary bladder hyperactivity. The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of the first decade of life. Most persons with early-onset SPG3A have a “pure” (“uncomplicated”) HSP; however, complicated HSP with axonal motor neuropathy and/or distal amyotrophy with lower motor neuron involvement (Silver syndrome phenotype) have been observed. The rate of progression in SPG3A is slow, and wheelchair dependency or need for a walking aid (cane, walker, or wheelchair) is relatively rare. [from GeneReviews]

MedGen UID:
442321
Concept ID:
CN074283
Disease or Syndrome
5.

Late onset

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

MedGen UID:
427965
Concept ID:
CN003237
Finding
6.

Autosomal dominant spastic paraplegia type 3

MedGen UID:
419393
Concept ID:
C2931355
Disease or Syndrome
7.

Spastic paraplegia

MedGen UID:
335468
Concept ID:
C1846589
Finding
8.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
9.

Onset

The start, beginning, or early stages. [from NCI]

MedGen UID:
87142
Concept ID:
C0332162
10.

Spastic paraplegia

Progressive spasticity of the lower limbs with exaggerated deep tendon reflexes and Babinski sign classified as pure (with spasticity as the only manifestation) and complicated (with brain abnormalities and mental retardation) forms which are further subdivided into several categories according to their genetic and clinical characteristics. It is involved in numerous syndromic entities. spastic paraplegia 1 (SPG1) (OMIM 312900) Synonym: X-linked complicated spastic paraplegia (SPPX1) Spastic paraplegia, transmitted as an X-linked trait, with neurological complications involving the cerebellum, cerebral cortex, and optic nerves. Severe mental retardation is a constant feature. spastic paraplegia 2 (SPG2) (OMIM 312920) Synonyms: Goldblatt syndrome X-linked uncomplicated spastic paraplegia (SPPX2) Spastic paraplegia, transmitted as an X-linked trait, with nystagmus, optic atrophy, intellectual handicap, and mild ataxia of the upper limbs. spastic paraplegia 3 (SPG3) (OMIM 182600) Synonyms: Strumpell disease Strumpell familial spastic paraplegia Strumpell-Lorrain syndrome von Strumpell syndrome A slowly progressive familial disease, transmitted as an autosomal dominant trait, with lower limb spasticity, gait difficulties, and weakness. Neurological changes involve the lateral cortical tracts and fasciculus gracilis. Some patients exhibit ataxia and neurogenic bladder. spastic paraplegia 4 (SPG4) (OMIM 182601) An uncomplicated form of SPG2 transmitted as an autosomal dominant trait and marked mainly by progressive spasticity of the lower limbs. spastic paraplegia-epilepsy-mental retardation (SPERM) syndrome (OMIM 182610) A syndrome with incomplete penetrance and variable expresivity with progressive weakness and spasticity of the lower limbs, epilepsy, and mental retardation. spastic paraplegia-sensorineural deafness-mental retardation-progressive nephropathy syndrome (OMIM 182690) A complicated form, transmitted as an autosomal dominant trait, with variable spasticity of the lower limbs, sensorineural deafness, delayed mental development, and progressive nephropathy. spastic paraplegia-amyotrophy of hands syndrome (OMIM 182700) Synonyms: Silver syndrome spastic paraplegia-amyotrophy of hands syndrome Spastic paraplegia transmitted, as an autosomal dominant trait, with amyotrophic changes in the upper limbs. spastic paraplegia-extrapyramidal signs syndrome (OMIM 182800) Spastic paraplegia associated with extrapyramidal signs and transmitted as an autosomal dominant trait. spastic paraplegia-neuropathy-poikiloderma syndrome (OMIM 182815) Spastic paraplegia associated with demyelinating peripheral neuropathy, poikiloderma, and loss of eyebrows and eyelashes which is transmitted as an autosomal dominant trait. spastic paraplegia-precocious puberty syndrome (OMIM 182820) Spastic paraplegia with Leydig cell hypoplasia, precocious puberty, brisk leg reflexes, dysarthria, and mild mental retardation which is transmitted as an autosomal dominant trait. spastic paraplegia-optic atrophy-dementia syndrome (OMIM 182830) Spastic paraplegia with optic atrophy, constricted visual fields, and early dementia, which is transmitted as an autosomal dominant trait. spastic paraplegia-retinal degeneration syndrome (OMIM 270700) Synonym: familial spastic paraplegia with retinal degeneration recessive spastic paraplegia with retinal degeneration Spastic paraplegia, transmitted as an autosomal recessive trait, with retinal degeneration and dull mentality. spastic paraplegia-brachydactyly E syndrome (OMIM 270710) Spastic paraplegia ,transmitted as an autosomal recessive trait, with brachydactyly type E, cone-shaped epiphyses, abnormal finger metaphyses, dysarthria, and low-normal intelligence. spastic paraplegia-pigmentary abnormalities syndrome (OMIM 270750) Spastic paraplegia, transmitted as an autosomal recessive trait, with abnormal pigmentation (mainly crural hypopigmentation, pigmented nevi, and depigmented hair), progressive spastic paraparesis, and cerebellar ataxia. hereditary spastic paraplegia (HSP) (OMIM 270800) Synonym: paraplegia spastica hereditaria Spastic paraplegia transmitted as an autosomal recessive trait. Neurological involvement includes pyramidal disorders, dysarthria, impaired vibratory sense, and dysfunction of the glossopharyngeal (ninth), vagus (tenth), and hypoglossal (twelfth) nerves. Mental retardation and visual disorders occur in some cases. spastic paraplegia-epileptic myoclonus syndrome (OMIM 270805) Synonym: hereditary spastic paraplegia-epileptic myoclonus syndrome Spastic paraplegia, transmitted as an autosomal recessive trait, with epileptic myoclonus, muscle atrophy, mental retardation or dullness, ataxia, and hearing loss. spastic paresis-glaucoma-mental retardation syndrome (OMIM 270850) Synonym: spastic paresis-glaucoma-mental retardation syndrome Spastic paraplegia with glaucoma and speech and mental retardation. Transmitted as an autosomal recessive trait with parental consanguinity. spastic athetotic paraplegia (OMIM 312890) Synonym: Baar-Gabriel syndrome Spastic paraplegia, transmitted as an X-linked trait, with athetosis, mental retardation and occasional grand mal epilepsy and myoclonus. [from MCA/MR]

MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
11.

Hereditary spastic paraplegia

The hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness (occurring in variable proportion). When symptoms begin after childhood, they usually progress slowly and steadily. When symptoms begin in very early childhood, they may be non-progressive and resemble spastic diplegic cerebral palsy. HSP is classified as "uncomplicated" if neurologic impairment is limited to lower extremity spastic weakness, hypertonic urinary bladder disturbance, and mild diminution of lower extremity vibration sensation. HSP is classified as "complicated" if the impairment present in uncomplicated HSP is accompanied by other systemic or neurologic abnormalities such as ataxia, seizures, cognitive impairment, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy (in the absence of other causes for these additional features). Neurologic examination of individuals with uncomplicated HSP demonstrates variable degrees of increased muscle tone (spasticity) particularly in the hamstrings, quadriceps, gastrocnemius-soleus, and adductor muscles; weakness in the iliopsoas, hamstring, and tibialis anterior muscles; hyperreflexia at the patella and ankles; often (though not always) mildly reduced vibration sensation in the toes; extensor plantar responses; and spastic gait. [from GeneReviews]

MedGen UID:
20844
Concept ID:
C0037773
Disease or Syndrome
12.

Hyperreflexia

MedGen UID:
57738
Concept ID:
C0151889
Finding
13.

Error occurred: cannot get document summary

ID:
807336

14.

Spasticity

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. [from HPO]

MedGen UID:
504771
Concept ID:
CN001152
Finding
15.

Spastic paraplegia 4, autosomal dominant

Spastic paraplegia 4 (SPG4; also known as SPAST-associated HSP) is characterized by insidiously progressive bilateral lower-limb gait spasticity. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. About one third have sphincter disturbances. Onset is insidious, mostly in young adulthood, although symptoms may start as early as age one year and as late as age 76 years. Intrafamilial variation is considerable. [from GeneReviews]

MedGen UID:
401097
Concept ID:
C1866855
Disease or Syndrome
16.

Progressive spasticity

MedGen UID:
347171
Concept ID:
C1859520
Finding
17.

Muscle Spasticity

A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54) [from MeSH]

MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
18.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI_NCI-GLOSS]

MedGen UID:
5539
Concept ID:
C0019409
19.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
20.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome

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