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1.

Parkinson disease

Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the primary and most common form of parkinsonism. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases. The most common sporadic form of Parkinson disease manifests around age 60; however, young-onset and even juvenile presentations are seen. [from GeneReviews]

MedGen UID:
10590
Concept ID:
C0030567
Disease or Syndrome
2.

Movement disorder

Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. . Nerve diseases cause many movement disorders, such as Parkinson's disease. Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families. Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.  [from MedlinePlus]

MedGen UID:
10113
Concept ID:
C0026650
Disease or Syndrome
3.

Essential tremor

A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) [from MeSH]

MedGen UID:
78725
Concept ID:
C0270736
Disease or Syndrome
4.

Restless legs

Restless legs syndrome (RLS) causes a powerful urge to move your legs. Your legs become uncomfortable when you are lying down or sitting. Some people describe it as a creeping, crawling, tingling, or burning sensation. Moving makes your legs feel better, but not for long. RLS can make it hard to fall asleep and stay asleep. In most cases, there is no known cause for RLS. In other cases, RLS is caused by a disease or condition, such as anemia or pregnancy. Some medicines can also cause temporary RLS. Caffeine, tobacco, and alcohol may make symptoms worse. Lifestyle changes, such as regular sleep habits, relaxation techniques, and moderate exercise during the day can help. If those don't work, medicines may reduce the symptoms of RLS. Most people with RLS also have a condition called periodic limb movement disorder (PLMD). PLMD is a condition in which a person's legs twitch or jerk uncontrollably, usually during sleep. PLMD and RLS can also affect the arms. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
48427
Concept ID:
C0035258
Disease or Syndrome
5.

Gaucher disease

Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity. [from GeneReviews]

MedGen UID:
42164
Concept ID:
C0017205
Disease or Syndrome
6.

Dystonia

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements and/or postures. Dystonic movements are typically patterned and twisting, and may be associated with tremor. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia can be classified clinically according to age of onset, body distribution, temporal pattern, and associated features (i.e., isolated dystonia – in which it is the only motor feature except tremor; combined dystonia – in which another movement disorder is present; or complex dystonia – in which other neurologic or systemic manifestations are present). [from GeneReviews]

MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
7.

Paroxysmal kinesigenic dyskinesia

Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements. [from ORDO]

MedGen UID:
799491
Concept ID:
CN207123
Disease or Syndrome
8.

Tremor

MedGen UID:
776582
Concept ID:
C2364114
Finding
9.

Restless legs

A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). [from HPO]

MedGen UID:
760168
Concept ID:
CN182135
Finding
10.

Dyskinesia

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. [from HPO]

MedGen UID:
506509
Concept ID:
CN117552
Finding
11.

Basal ganglia calcification

The presence of calcium deposition affecting one or more structures of the basal ganglia. [from HPO]

MedGen UID:
505119
Concept ID:
CN001935
Finding
12.

Dystonia

An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. [from HPO]

MedGen UID:
504804
Concept ID:
CN001220
Finding
13.

Tremor

MedGen UID:
472309
Concept ID:
CN130231
Disease or Syndrome
14.

Dystonia 10

Familial paroxysmal kinesigenic dyskinesia (referred to as familial PKD in this entry) is characterized by unilateral or bilateral involuntary movements precipitated by other sudden movements such as standing up from a sitting position, being startled, or changes in velocity; attacks include combinations of dystonia, choreoathetosis, and ballism, are sometimes preceded by an aura, and do not involve loss of consciousness. Attacks can be as frequent as 100 per day to as few as one per month. Attacks are usually a few seconds to five minutes in duration but can last several hours. Age of onset, severity and combinations of symptoms vary. Age of onset, typically in childhood and adolescence, ranges from four months to 57 years. The phenotype of PKD can include benign familial infantile epilepsy (BFIE), infantile convulsions and choreoathetosis (ICCA), hemiplegic migraine, migraine with and without aura, and episodic ataxia. Familial PKD is predominantly seen in males. [from GeneReviews]

MedGen UID:
358268
Concept ID:
C1868682
Disease or Syndrome
15.

Calcinosis

Deposits of calcium in the tissues. Calcification in the breast can be seen on a mammogram, but cannot be detected by touch. There are two types of breast calcification, macrocalcification and microcalcification. Macrocalcifications are large deposits and are usually not related to cancer. Microcalcifications are specks of calcium that may be found in an area of rapidly dividing cells. Many microcalcifications clustered together may be a sign of cancer. [from NCI]

MedGen UID:
288557
Concept ID:
C1533591
Finding; Organ or Tissue Function
16.

Basal ganglia calcification

The presence of calcium deposition affecting one or more structures of the basal ganglia. [from HPO]

MedGen UID:
234651
Concept ID:
C1389280
Finding; Pathologic Function
17.

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
Genetic Function; Intellectual Product
18.

Idiopathic basal ganglia calcification 1

Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with gradually progressive neuropsychiatric and movement disorders. The main manifestations include clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Migraine is frequent and seizures of various types may also occur. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. [from GeneReviews]

MedGen UID:
97952
Concept ID:
C0393590
Disease or Syndrome
19.

Dyskinesia

Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES. [from MeSH]

MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
20.

Calcinosis

Structure with calcium deposition [from SNOMED CT]

MedGen UID:
709
Concept ID:
C0006663
Finding; Pathologic Function
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