Abnormality of the skeletal system, and Dystonia

Diseases related with Abnormality of the skeletal system and Dystonia

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Dystonia that can help you solving undiagnosed cases.


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match PRIMARY DYSTONIA, DYT27 TYPE


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).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT27 TYPE

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5


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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY


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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

Low match AUTOSOMAL DOMINANT FOCAL DYSTONIA, DYT25 TYPE


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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT FOCAL DYSTONIA, DYT25 TYPE

Low match PRIMARY DYSTONIA, DYT13 TYPE


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

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY DYSTONIA, DYT13 TYPE

Low match HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS


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

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dystonia
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS

Low match PRIMARY DYSTONIA, DYT21 TYPE


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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT21 TYPE

Low match PRIMARY DYSTONIA, DYT6 TYPE


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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PRIMARY DYSTONIA, DYT6 TYPE

Low match PRIMARY DYSTONIA, DYT17 TYPE


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.

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY DYSTONIA, DYT17 TYPE

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Dystonia

Symptoms // Phenotype % cases
Torticollis Uncommon - Between 30% and 50% cases
Torsion dystonia Uncommon - Between 30% and 50% cases
Limb dystonia Uncommon - Between 30% and 50% cases
Focal dystonia Uncommon - Between 30% and 50% cases
Laryngeal dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Dystonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Craniofacial dystonia Generalized dystonia Tremor Axial dystonia Writer's cramp Oromandibular dystonia Blepharospasm Stereotypy Myoclonus Dysphonia Seizures

Rare Symptoms - Less than 30% cases


Parkinsonism Abnormality of movement Lingual dystonia Dysarthria Intellectual disability Cognitive impairment Action tremor Postural tremor Behavioral abnormality Rigidity Abnormality of the head Global developmental delay Delayed speech and language development Paroxysmal dystonia Abnormal facial shape Inappropriate behavior Upper motor neuron dysfunction Psychosis Memory impairment Chorea Anxiety Depressivity Focal-onset seizure Ataxia Jerky head movements Upper limb postural tremor Hoarse voice Involuntary movements Postural instability Generalized tonic-clonic seizures Dyskinesia Choreoathetosis Paroxysmal choreoathetosis Focal sensory seizure Hyperkinesis Shivering Cerebral cortical atrophy



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