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Items: 1 to 20 of 40

1.

Primary lateral sclerosis

A progressive neurodegenerative disorder affecting upper motor neurons, characterized by progressive muscle weakness. [from NCI]

MedGen UID:
57591
Concept ID:
C0154682
Disease or Syndrome
2.

Sclerosis

A pathological hardening or thickening of tissue, especially that of the interstitial substance. [from NCI]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
3.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles. [from GTR]

MedGen UID:
274
Concept ID:
C0002736
Disease or Syndrome
4.

Juvenile amyotrophic lateral sclerosis

A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2). [from SNOMEDCT_US]

MedGen UID:
923704
Concept ID:
C3468114
Disease or Syndrome
5.

Juvenile amyotrophic lateral sclerosis

MedGen UID:
893723
Concept ID:
CN239582
Disease or Syndrome
6.

Amyotrophic lateral sclerosis

MedGen UID:
506059
Concept ID:
CN006437
Finding
7.

Infantile-onset ascending hereditary spastic paralysis

ALS2-related disorders involve retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprise a clinical continuum from infantile ascending hereditary spastic paraplegia (IAHSP), to juvenile forms without lower motor neuron involvement (juvenile primary lateral sclerosis [JPLS]), to forms with lower motor neuron involvement (autosomal recessive juvenile amyotrophic lateral sclerosis [JALS]). IAHSP is characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome. JPLS is characterized by onset and loss of ability to walk during the second year of life, progressive signs of upper motor neuron disease, wheelchair dependence by adolescence, and later loss of motor speech production. JALS is characterized by onset during childhood (mean age of onset 6.5 years), spasticity of facial muscles, uncontrolled laughter, spastic dysarthria, spastic gait, moderate muscle atrophy (variably present), bladder dysfunction, and sensory disturbances; some individuals are bedridden by age 12 to 50 years. [from GTR]

MedGen UID:
335467
Concept ID:
C1846588
8.

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
9.

Lateral

Situated at or extending to the side. [from NCI]

MedGen UID:
64373
Concept ID:
C0205093
Spatial Concept
10.

Autosomal Recessive Hereditary Spastic Paraplegia

MedGen UID:
155595
Concept ID:
C0751603
Disease or Syndrome
11.

Spastic

of relating to spasm [from CHV]

MedGen UID:
141050
Concept ID:
C0443306
Mental or Behavioral Dysfunction
12.

Paraplegia

Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. [from NCI]

MedGen UID:
45323
Concept ID:
C0030486
Disease or Syndrome
13.

Spastic paraplegia

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

MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
14.

Much

A subjective response indicating that something is or was a large amount. [from NCI]

MedGen UID:
923949
Concept ID:
C4281574
Finding
15.

Spastic paraplegia

MedGen UID:
335468
Concept ID:
C1846589
16.

Hypoplasia of the corpus callosum

Underdevelopment of the corpus callosum. [from HPO]

MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
17.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
18.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
19.

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 GTR]

MedGen UID:
20844
Concept ID:
C0037773
Disease or Syndrome
20.

TDP-43 Proteinopathies

Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease. [from MeSH]

MedGen UID:
439336
Concept ID:
C2718017
Disease or Syndrome
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