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Results: 1 to 20 of 49

1.

of relating to spasm [from CHV]

MedGen UID:
141050
Concept ID:
C0443306
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.

Abnormality of the cerebral white matter

An abnormality of the `cerebral white matter` (FMA:241998). [from HPO]

MedGen UID:
425101
Concept ID:
CN002271
Finding
5.

Spastic paraplegia 15

Spastic paraplegia-15 is an autosomal recessive neurodegenerative disorder characterized by progressive spasticity primarily affecting the lower limbs. It is a complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable mental retardation, hearing and visual defects, and thin corpus callosum (summary by Goizet et al., 2009). [from OMIM]

MedGen UID:
341387
Concept ID:
C1849128
Disease or Syndrome
6.

Spastic paraplegia

MedGen UID:
335468
Concept ID:
C1846589
Finding
7.

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
8.

Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions. [from MeSH]

MedGen UID:
113150
Concept ID:
C0221166
9.

Complicated hereditary spastic paraplegia

MedGen UID:
581446
Concept ID:
C0393556
Disease or Syndrome
10.

Muscle stiffness

A condition in which muscles cannot be moved quickly without accompanying pain or spasm. [from HPO]

MedGen UID:
505558
Concept ID:
CN003206
Finding
11.

Paraparesis

Weakness or partial paralysis in the lower limbs. [from HPO]

MedGen UID:
505223
Concept ID:
CN002166
Finding
12.

Error occurred: cannot get document summary

ID:
429829

13.

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
14.

Spastic paraplegia 11, autosomal recessive

Spastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism. Onset occurs mainly during infancy or adolescence (range: age 1-31 years). Most affected individuals become wheelchair bound one or two decades after disease onset. [from GeneReviews]

MedGen UID:
388073
Concept ID:
C1858479
Disease or Syndrome
15.

Phenotypic variability

MedGen UID:
381249
Concept ID:
C1853719
Finding
16.

Slow progression

MedGen UID:
373057
Concept ID:
C1836301
Finding
17.

Tarsal carpal coalition syndrome

Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects primarily the hands and feet. Several individual bones make up each wrist (carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, the carpal bones fuse together, as do the tarsal bones, which causes stiffness and immobility of the hands and feet. Symptoms of the condition can become apparent in infancy, and they worsen with age. The severity of the symptoms can vary, even among members of the same family. In this condition, fusion at the joints between the bones that make up each finger and toe (symphalangism) can also occur. Consequently, the fingers and toes become stiff and difficult to bend. Stiffness of the pinky fingers and toes (fifth digits) is usually noticeable first. The joints at the base of the pinky fingers and toes fuse first, and slowly, the other joints along the length of these digits may also be affected. Progressively, the bones in the fourth, third, and second digits (the ring finger, middle finger, and forefinger, and the corresponding toes) become fused. The thumb and big toe are usually not involved. Affected individuals have increasing trouble forming a fist, and walking often becomes painful and difficult. Occasionally, there is also fusion of bones in the upper and lower arm at the elbow joint (humeroradial fusion). Less common features of tarsal-carpal coalition syndrome include short stature or the development of hearing loss.
[from GHR]

MedGen UID:
348322
Concept ID:
C1861305
Disease or Syndrome
18.

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
19.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
20.

variable phenotype

MedGen UID:
324814
Concept ID:
C1837514
Finding

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