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Items: 9

1.

Autosomal recessive Parkinson disease 14

Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.

Generally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.

Often the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.

Parkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement. [from MedlinePlus Genetics]

MedGen UID:
414488
Concept ID:
C2751842
Disease or Syndrome
2.

Supranuclear palsy, progressive, 1

The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances. [from GeneReviews]

MedGen UID:
1640811
Concept ID:
C4551863
Disease or Syndrome
3.

Spinocerebellar ataxia type 12

Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5'' end of the PPP2R2B gene on chromosome 5q31-5q32. [from SNOMEDCT_US]

MedGen UID:
347653
Concept ID:
C1858501
Disease or Syndrome
4.

Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) is an autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some patients show normal early development, but later have regression of motor, cognitive, and language skills. More variable features include seizures, joint contractures, ocular disturbances, episodic respiratory failure, and nonspecific dysmorphic facial features. The intellectual impairment is variable, ranging from poor visual contact with inability to walk or speak to milder intellectual disability with the ability to say some words. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination (summary by Husain et al., 2020). [from OMIM]

MedGen UID:
1736667
Concept ID:
C5436628
Disease or Syndrome
5.

Mitochondrial complex 1 deficiency, nuclear type 8

MedGen UID:
1648411
Concept ID:
C4748766
Disease or Syndrome
6.

Dystonia 23

A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor. [from SNOMEDCT_US]

MedGen UID:
761274
Concept ID:
C3538999
Disease or Syndrome
7.

Supranuclear palsy, progressive, 2

MedGen UID:
324446
Concept ID:
C1836148
Disease or Syndrome
8.

Dystonia 33

Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by Kuipers et al., 2021). [from OMIM]

MedGen UID:
1794264
Concept ID:
C5562054
Disease or Syndrome
9.

Axial dystonia

A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. [from HPO]

MedGen UID:
373027
Concept ID:
C1836149
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