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Results: 1 to 20 of 42

1.

Megalencephalic leukoencephalopathy with subcortical cysts 1

The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to the 98th percentile, usually several centimeters above it. Almost all individuals have epilepsy from an early age. Initial mental and motor development is normal in most cases. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Mental deterioration is late and mild. Severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their forties. An atypical improving phenotype has a similar initial presentation without mental or motor regression, followed by an improving clinical course: motor and cognitive functions improve or normalize; macrocephaly usually persists, but some children become normocephalic; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable with or without autism. [from GeneReviews]

MedGen UID:
347006
Concept ID:
C1858854
Disease or Syndrome
2.

Cyst

A sac or capsule in the body. It may be filled with fluid or other material. [from NCI]

MedGen UID:
41396
Concept ID:
C0010709
Disease or Syndrome
3.

Leukoencephalopathy

This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. [from HPO]

MedGen UID:
505209
Concept ID:
CN002135
Finding
4.

Megalencephalic leukoencephalopathy with subcortical cysts

The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to the 98th percentile, usually several centimeters above it. Almost all individuals have epilepsy from an early age. Initial mental and motor development is normal in most cases. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Mental deterioration is late and mild. Severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their forties. An atypical improving phenotype has a similar initial presentation without mental or motor regression, followed by an improving clinical course: motor and cognitive functions improve or normalize; macrocephaly usually persists, but some children become normocephalic; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable with or without autism. [from GeneReviews]

MedGen UID:
500869
Concept ID:
CN176898
Disease or Syndrome
5.

Megalencephalic leukoencephalopathy with subcortical cysts 2a

The classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity, and sometimes extrapyramidal findings; and usually late onset of mild mental deterioration. Macrocephaly, observed in all individuals, may be present at birth but more frequently develops during the first year of life. The degree of macrocephaly is variable and can be as great as 4 to 6 SD above the mean in some individuals. After the first year of life, head growth rate normalizes and growth follows a line parallel to the 98th percentile, usually several centimeters above it. Almost all individuals have epilepsy from an early age. Initial mental and motor development is normal in most cases. Walking is often unstable, followed by ataxia of the trunk and extremities, then minor signs of pyramidal dysfunction and brisk deep-tendon stretch reflexes. Mental deterioration is late and mild. Severity ranges from independent walking for a few years only to independent walking in the fifth decade. Some individuals have died in their teens or twenties; others are alive in their forties. An atypical improving phenotype has a similar initial presentation without mental or motor regression, followed by an improving clinical course: motor and cognitive functions improve or normalize; macrocephaly usually persists, but some children become normocephalic; hypotonia and clumsiness may persist in some or neurologic examination may become normal. Some have intellectual disability that is stable with or without autism. [from GeneReviews]

MedGen UID:
462705
Concept ID:
C3151355
Disease or Syndrome
6.

Leukoencephalopathy

Any of various diseases affecting the white matter of the central nervous system. [from MeSH]

MedGen UID:
78722
Concept ID:
C0270612
Disease or Syndrome
7.

Megalencephaly

Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999). [from OMIM]

MedGen UID:
439426
Concept ID:
C2720434
Congenital Abnormality
8.

Seizure

the most dramatic type of seizure [from CHV]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
9.

Ataxia

unable to coordinate muscle movement [from CHV]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
10.

Resonance

MedGen UID:
534094
Concept ID:
C0231881
Finding
11.

Megalencephaly

Enlargement of all or parts of the cerebral hemispheres. [from HPO]

MedGen UID:
504811
Concept ID:
CN001241
Finding
12.

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
13.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
504767
Concept ID:
CN001146
Finding
14.

Ataxia

MedGen UID:
472353
Concept ID:
C1135207
Pathologic Function
15.

Spasticity

MedGen UID:
472258
Concept ID:
CN130180
Disease or Syndrome
16.

Seizures

MedGen UID:
472115
Concept ID:
CN130037
Disease or Syndrome
17.

Mild

The second level of severity in an ordered list based on a five-level scale of minimal, mild, moderate, marked, and severe. [from NCI]

MedGen UID:
422477
Concept ID:
C2945599
18.

Seizure

MedGen UID:
409523
Concept ID:
C1959629
Finding
19.

Slow progression

MedGen UID:
373057
Concept ID:
C1836301
Finding
20.

Mental deterioration

MedGen UID:
349663
Concept ID:
C1863063
Finding

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