Generalized hypotonia, and Abnormality of extrapyramidal motor function

Diseases related with Generalized hypotonia and Abnormality of extrapyramidal motor function

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

Top matches:

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

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

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

Other less relevant matches:

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

PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 Is also known as parkinson disease 4, autosomal dominant lewy body

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Weight loss


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY Is also known as non-phenylketonuric non-bh4-deficiency hyperphenylalaninemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

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

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Abnormality of extrapyramidal motor function

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

Other less frequent symptoms

Patients with Generalized hypotonia and Abnormality of extrapyramidal motor function. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Dysarthria Hyperreflexia Muscular hypotonia of the trunk Dementia Myoclonus Rigidity Parkinsonism Cognitive impairment Bradykinesia Chorea Tremor Cerebellar atrophy Hypertonia Delayed speech and language development

Rare Symptoms - Less than 30% cases

Abnormal autonomic nervous system physiology Generalized tonic-clonic seizures Mental deterioration Cerebral atrophy Depressivity Babinski sign Progressive cerebellar ataxia Dyskinesia Neuronal loss in central nervous system Postural tremor Epileptic encephalopathy Muscular hypotonia Intellectual disability, severe Limb hypertonia Hypomimic face Abnormal pyramidal sign Involuntary movements Abnormality of movement Motor delay Gait ataxia Absent speech Clumsiness Optic atrophy Muscle cramps Intellectual disability, moderate Broad-based gait Cerebral cortical atrophy Hyporeflexia Jerky ocular pursuit movements Limb dysmetria Hyperphenylalaninemia Titubation Morphological abnormality of the pyramidal tract Impaired vibratory sensation Dysmetria Cerebral palsy Oculogyric crisis Optic disc pallor Hearing impairment Limb ataxia Abnormal cerebellum morphology Abnormality of the substantia nigra Fasciculations Feeding difficulties Cortical gyral simplification Opisthotonus Hypoplasia of the brainstem Poor suck Clonus Progressive microcephaly Sloping forehead Cerebellar hypoplasia Encephalopathy Hypoplasia of the corpus callosum Ventriculomegaly Visual impairment Spasticity Ophthalmoparesis Microcephaly Abnormal cell morphology Cerebellar Purkinje layer atrophy Spinal cord posterior columns myelin loss Abnormality of the spinocerebellar tracts Obesity Olivopontocerebellar hypoplasia Cerebral white matter atrophy Supranuclear ophthalmoplegia Kinetic tremor Abnormal cortical gyration Slow saccadic eye movements Hyperactive deep tendon reflexes Attention deficit hyperactivity disorder Mutism Intellectual disability, mild Restlessness Choreoathetosis Hemiparesis Tetraparesis Status epilepticus Generalized-onset seizure Migraine Tetraplegia Abnormality of eye movement Abnormality of the eye Anxiety Headache Athetosis Loss of consciousness Increased serum lactate Inability to walk Severe global developmental delay Progressive extrapyramidal movement disorder Self-mutilation Infantile muscular hypotonia Absence seizures Intellectual disability, profound Autistic behavior Hyperactivity Behavioral abnormality Hemiplegia Episodic quadriplegia Myoclonic absences Lewy bodies Eyelid myoclonus Cortical myoclonus Myokymia Arnold-Chiari type I malformation Generalized myoclonic seizures EEG abnormality Fever Short stature Auditory hallucinations Paranoia Senile plaques Neurofibrillary tangles Focal-onset seizure Resting tremor Orthostatic hypotension Hallucinations Memory impairment Hypotension Gliosis Weight loss Frontal release signs Primitive reflex Diffuse cerebral atrophy Emotional lability Personality changes Extrapyramidal dyskinesia


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