Dysarthria, and Cerebral cortical atrophy

Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.

• Dysarthria
• Dystonia
• Cerebral cortical atrophy
• Parkinsonism
• Torticollis

SOURCES: MESH OMIM ORPHANET MENDELIAN

Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

• Global developmental delay
• Hearing impairment
• Cataract
• Intellectual disability, mild
• Agenesis of corpus callosum

SOURCES: ORPHANET MENDELIAN

• Nystagmus
• Dysarthria
• Cerebellar atrophy
• Cerebral cortical atrophy
• Gait ataxia

SOURCES: ORPHANET MENDELIAN

• Ataxia
• Peripheral neuropathy
• Hyperreflexia
• Dysarthria
• Tremor

SOURCES: OMIM MENDELIAN

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

• Seizures
• Ataxia
• Hyperreflexia
• Dysarthria
• Gait disturbance

SOURCES: OMIM ORPHANET MESH MENDELIAN

Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by Freischmidt et al., 2015).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

• Cognitive impairment
• Hyperreflexia
• Dysarthria
• Skeletal muscle atrophy
• Dysphagia

SOURCES: OMIM MENDELIAN

Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

• Muscle weakness
• Cognitive impairment
• Hyperreflexia
• Dysarthria
• Skeletal muscle atrophy

SOURCES: OMIM MENDELIAN

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

• Generalized hypotonia
• Nystagmus
• Dysarthria
• Dystonia
• Hyporeflexia

SOURCES: ORPHANET MENDELIAN

Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

• Seizures
• Dysarthria
• Tremor
• Dysphagia
• Dystonia

SOURCES: OMIM MENDELIAN

ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

• Seizures
• Ataxia
• Spasticity
• Cognitive impairment
• Dysarthria

SOURCES: OMIM MENDELIAN