Abnormality of the skeletal system, and Dystonia

• Intellectual disability
• Seizures
• Global developmental delay
• Abnormal facial shape
• Cognitive impairment

SOURCES: OMIM MESH MENDELIAN

Dystonia-27 is an autosomal recessive neurologic disorder characterized by onset of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs in the first 2 decades of life (summary by Zech et al., 2015).

• Tremor
• Dystonia
• Postural tremor
• Limb dystonia
• Action tremor

SOURCES: ORPHANET OMIM MENDELIAN

Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by Gardella et al., 2016 and Anand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 Is also known as convulsions, benign familial infantile, 5|bfic5

• Seizures
• Dystonia
• Generalized tonic-clonic seizures
• Dyskinesia
• Choreoathetosis

SOURCES: OMIM MENDELIAN

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.

AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Is also known as adnfle

• Intellectual disability
• Seizures
• Behavioral abnormality
• Dystonia
• Focal-onset seizure

SOURCES: OMIM MESH ORPHANET MENDELIAN

Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms).

AUTOSOMAL DOMINANT FOCAL DYSTONIA, DYT25 TYPE Is also known as dyt25|dystonia 25

• Dystonia
• Torticollis
• Limb dystonia
• Focal dystonia
• Laryngeal dystonia

SOURCES: OMIM ORPHANET MENDELIAN

DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.

PRIMARY DYSTONIA, DYT13 TYPE Is also known as dyt13|primary dystonia with mixed phenotype|primary torsion dystonia with predominant craniocervical or upper limb onset

• Tremor
• Dystonia
• Postural instability
• Involuntary movements
• Stereotypy

SOURCES: MESH OMIM ORPHANET MENDELIAN

Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.

HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS Is also known as c9orf72-related huntington disease phenocopy|c9orf72-related huntington disease-like syndrome|huntington disease phenocopy due to c9orf72 expansions

• Ataxia
• Cognitive impairment
• Tremor
• Dystonia
• Depressivity

SOURCES: ORPHANET MENDELIAN

Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.

PRIMARY DYSTONIA, DYT21 TYPE Is also known as dyt21

• Dystonia
• Abnormality of movement
• Stereotypy
• Torticollis
• Dysphonia

SOURCES: ORPHANET OMIM MENDELIAN

Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.

PRIMARY DYSTONIA, DYT6 TYPE Is also known as generalized cervical and upper-limb-onset dystonia|dyt6|idiopathic torsion dystonia of mixed type|torsion dystonia, adult-onset, mixed type

• Delayed speech and language development
• Dysarthria
• Dystonia
• Myoclonus
• Abnormality of movement

SOURCES: OMIM MESH ORPHANET MENDELIAN

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