Generalized hypotonia, and Bradykinesia

Diseases related with Generalized hypotonia and Bradykinesia

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

Top matches:

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

Other less relevant matches:

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

HUNTINGTON DISEASE-LIKE 1 Is also known as early-onset prion disease with prominent psychiatric features|hln1|prion disease, early-onset, with prominent psychiatric features|hdl1|huntington-like neurodegenerative disorder 1|huntington-like neurodegenerative disorder, autosomal dominant

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 1

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME Is also known as capos syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME

Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016).For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Bradykinesia

Symptoms // Phenotype % cases
Dystonia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Parkinsonism Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Rigidity

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Global developmental delay Dysarthria Dysphagia Motor delay Muscular hypotonia of the trunk Hypertonia Delayed speech and language development Fever Hypomimic face Encephalopathy Oculogyric crisis Gait disturbance Hypokinesia Gait ataxia Postural instability Cognitive impairment Irritability Hyperphenylalaninemia Hyperreflexia Intellectual disability, mild Cerebellar atrophy Depressivity Anxiety Limb dystonia Drooling Nystagmus Torticollis Lethargy Gliosis Progressive neurologic deterioration Neuronal loss in central nervous system Babinski sign Excessive salivation Abnormality of eye movement

Rare Symptoms - Less than 30% cases

Episodic fever Pes cavus Cerebral atrophy Focal dystonia Mask-like facies Incoordination Dysmetria Opisthotonus Involuntary movements Abnormal posturing Abnormality of the eye Hyperhidrosis Abnormality of the nervous system Constipation Behavioral abnormality Feeding difficulties Abnormality of extrapyramidal motor function Choreoathetosis Intellectual disability, progressive Poor suck Spasticity Ptosis Strabismus Weight loss Resting tremor Absent speech Unsteady gait Abnormality of movement Myoclonus EEG abnormality Limb hypertonia Dementia Memory impairment Mutism Broad-based gait Central hypotonia Brisk reflexes Lower limb hyperreflexia Apraxia Progressive encephalopathy Generalized dystonia Parkinsonism with favorable response to dopaminergic medication Night sweats Talipes equinovarus Postural tremor Respiratory distress Hearing impairment Simultanapraxia Basal ganglia gliosis Jerky head movements Abnormal head movements Abnormality of ocular smooth pursuit Jerky ocular pursuit movements Abnormality of higher mental function Abnormal saccadic eye movements Abnormality of the shoulder Mania Decreased CSF homovanillic acid Optic atrophy Sensorineural hearing impairment Motor deterioration Oromandibular dystonia Polycythemia Ankle clonus Postnatal microcephaly Abnormality of the liver Developmental regression Flexion contracture Scoliosis Episodic generalized hypotonia Moderate hearing impairment Anarthria Episodic ataxia Drowsiness Muscle weakness Progressive sensorineural hearing impairment Horizontal nystagmus Truncal ataxia Limb ataxia Hemiparesis Progressive visual loss Autistic behavior Areflexia Blindness Abnormality of the basal ganglia Peripheral neuropathy Visual impairment Poor fine motor coordination Hypotension Slow saccadic eye movements Myoclonic absences Fatigue Muscular hypotonia Generalized tonic-clonic seizures Transient hyperphenylalaninemia Generalized myoclonic seizures Excessive daytime somnolence Epileptic encephalopathy Arnold-Chiari type I malformation Myokymia Cortical myoclonus Eyelid myoclonus Small for gestational age Auditory hallucinations Obesity Attention deficit hyperactivity disorder Microcephaly Retrocollis Personality disorder Craniofacial dystonia Weak voice Torsion dystonia Emotional lability Dysphonia Inability to walk Short stature Paranoia Delusions Aggressive behavior Restlessness Hyperactive deep tendon reflexes Global brain atrophy Progressive cerebellar ataxia Personality changes Slurred speech Frequent falls Clumsiness Chorea Hallucinations Mental deterioration Cerebral cortical atrophy Senile plaques Ventriculomegaly Infantile encephalopathy Abnormal autonomic nervous system physiology Impulsivity Obsessive-compulsive behavior Hyperkinesis Severe muscular hypotonia Orthostatic hypotension Neurofibrillary tangles Hyperactivity Lewy bodies Limb joint contracture


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