Generalized hypotonia, and Dystonia

Diseases related with Generalized hypotonia and Dystonia

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

MYOCLONUS-DYSTONIA SYNDROME Is also known as myoclonic dystonia|hereditary essential myoclonus|dystonia, alcohol-responsive|myoclonus-dystonia syndrome|myoclonus, hereditary essential|alcohol-responsive dystonia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cognitive impairment
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOCLONUS-DYSTONIA SYNDROME

Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.

GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME Is also known as generalized epilepsy and paroxysmal dyskinesia|gepd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GENERALIZED EPILEPSY-PAROXYSMAL DYSKINESIA SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA; LDAMD

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) (Trivisano et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 (OMIM ).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).

EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 Is also known as epilepsy, familial, with nocturnal wandering and ictal fear

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Behavioral abnormality
  • Dystonia
  • Myoclonus


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

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 Generalized hypotonia and Dystonia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Chorea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Dystonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Cognitive impairment Abnormality of movement Motor delay Anxiety Myoclonus Hyperreflexia Dysarthria

Rare Symptoms - Less than 30% cases

Abnormality of the eye Generalized tonic-clonic seizures Generalized-onset seizure Dyskinesia Abnormal autonomic nervous system physiology Paroxysmal dyskinesia Involuntary movements Status epilepticus Abnormality of eye movement Leukodystrophy Hypertonia Choreoathetosis Intellectual disability, severe Dementia Muscular hypotonia of the trunk Tremor Behavioral abnormality Depressivity Pain insensitivity Resting tremor Limb dystonia Truncal ataxia Limb ataxia Neurodegeneration Delayed gross motor development Cerebellar atrophy Abnormal pyramidal sign Dilated cardiomyopathy Limb hypertonia Myokymia Spasticity Episodic quadriplegia Loss of consciousness Hemiplegia Orofacial dyskinesia Spastic ataxia Difficulty walking Titubation Hemiparesis Axonal loss Joint dislocation Pruritus Hyperhidrosis Constipation Diarrhea Peripheral neuropathy Pain Failure to thrive Hypometric saccades Somnambulism Shivering Cardiomyopathy Cyanosis Confusion Congestive heart failure EEG abnormality Head titubation Chronic constipation Muscle weakness Central hypotonia Tetraparesis Torticollis Agoraphobia Retrocollis Personality disorder Axial dystonia Writer's cramp Torsion dystonia Laryngeal dystonia Obsessive-compulsive behavior Psychosis Panic attack Hyperactivity Muscular hypotonia Restlessness Athetosis Abnormality of extrapyramidal motor function Increased serum lactate Inability to walk Severe global developmental delay Absent speech Cortical myoclonus Limb myoclonus Migraine Hypsarrhythmia Parkinsonism Tetraplegia Mental deterioration Rigidity Headache Diffuse white matter abnormalities Progressive microcephaly Postnatal microcephaly Microcephaly Intellectual disability, profound Spinal myoclonus Epileptic encephalopathy Retinal dystrophy Encephalopathy Visual impairment EEG with spike-wave complexes (>3.5 Hz) Intellectual disability, borderline Absence seizures Esotropia Strabismus Facial myokymia


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