Dysarthria, and Myoclonus

Diseases related with Dysarthria and Myoclonus

In the following list you will find some of the most common rare diseases related to Dysarthria and Myoclonus that can help you solving undiagnosed cases.

Top matches:

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

Myoclonic dystonia-26 is an autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. The disorder is progressive, and patients later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. Dystonia dominates the clinical picture (summary by Mencacci et al., 2015).

Related symptoms:

  • Dysarthria
  • Tremor
  • Dystonia
  • Depressivity
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about DYSTONIA 26, MYOCLONIC; DYT26

CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia|bch

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about CHOREA, BENIGN HEREDITARY; BHC

Other less relevant matches:

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Medium match CLN13 DISEASE

Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.

PRIMARY DYSTONIA, DYT2 TYPE Is also known as dyt2|dystonia musculorum deformans 2

Related symptoms:

  • Feeding difficulties
  • Delayed speech and language development
  • Dysarthria
  • Tremor
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY DYSTONIA, DYT2 TYPE

Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 14 Is also known as sca14

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 14

FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL INFANTILE MYOCLONIC EPILEPSY

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Top 5 symptoms//phenotypes associated to Dysarthria and Myoclonus

Symptoms // Phenotype % cases
Tremor Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Myoclonus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized tonic-clonic seizures Generalized myoclonic seizures Intellectual disability Gait disturbance Cognitive impairment Anxiety Difficulty walking Generalized hypotonia Generalized dystonia Abnormality of movement Torticollis Blepharospasm

Rare Symptoms - Less than 30% cases

Febrile seizures Focal-onset seizure Absence seizures Hyperreflexia Involuntary movements Progressive cerebellar ataxia Limb ataxia Atonic seizures Dementia Rigidity Global developmental delay Photosensitive tonic-clonic seizures Aggressive behavior Dyskinesia Muscular hypotonia of the trunk Developmental regression Gait ataxia Delayed speech and language development Motor delay Babinski sign Dysphonia Limb dystonia Depressivity Laryngeal dystonia Neuronal loss in central nervous system Torsion dystonia Chorea Oromandibular dystonia EEG with irregular generalized spike and wave complexes Myokymia Hyporeflexia of lower limbs Cerebellar vermis atrophy Gaze-evoked nystagmus Sensory impairment Orofacial dyskinesia Abnormality of the Achilles tendon Facial grimacing Paroxysmal dyskinesia Mutism Dysphagia Saccadic smooth pursuit Irritability Intellectual disability, mild Muscle fibrillation Frontal release signs Cardiomyopathy Delayed fine motor development Leber optic atrophy Congestive heart failure Hypertonia Dilated cardiomyopathy Limb hypertonia Language impairment Choreoathetosis Clumsiness Delayed gross motor development Abnormal cerebellum morphology Attention deficit hyperactivity disorder Resting tremor Feeding difficulties Epileptic encephalopathy Primitive reflex Asthma Sensory neuropathy Dysmetria Cerebellar hypoplasia Peripheral neuropathy Axial dystonia Astrocytosis Behavioral abnormality Action tremor Head tremor Lingual dystonia Craniofacial dystonia Writer's cramp Abnormality of the head Focal dystonia Sensory axonal neuropathy Scoliosis Diffuse cerebral atrophy Myoclonic atonic seizures Emotional lability Postural tremor Personality changes Abnormality of extrapyramidal motor function Cerebral atrophy Cerebellar atrophy EEG with abnormally slow frequencies Autistic behavior Eyelid myoclonus EEG with spike-wave complexes (>3.5 Hz) Abnormal brain FDG positron emission tomography Impulsivity Status epilepticus Falls Facial myokymia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Dry skin, related diseases and genetic alterations