Generalized hypotonia, and Parkinsonism

Diseases related with Generalized hypotonia and Parkinsonism

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

Top matches:

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

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

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:

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

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

Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE

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

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

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

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

Symptoms // Phenotype % cases
Dystonia Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Tremor

Uncommon Symptoms - Between 30% and 50% cases

Bradykinesia

Common Symptoms - More than 50% cases

Hypertonia

Uncommon Symptoms - Between 30% and 50% cases

Oculogyric crisis Rigidity Motor delay Muscular hypotonia of the trunk Intellectual disability Gait ataxia Choreoathetosis Fever Dysphagia Hyperreflexia Limb dystonia Abnormality of movement Depressivity Irritability Anxiety Postural instability Progressive neurologic deterioration Drooling Nystagmus Hyperphenylalaninemia Hypomimic face Intellectual disability, mild Abnormality of eye movement Hypokinesia Gait disturbance Excessive salivation Ptosis Chorea Abnormal autonomic nervous system physiology Hyperhidrosis Cognitive impairment

Rare Symptoms - Less than 30% cases

Feeding difficulties Encephalopathy Opisthotonus Sleep disturbance Hyperkinesis Respiratory distress Neuronal loss in central nervous system Torticollis Gliosis Lethargy Focal dystonia Constipation Postural tremor Parkinsonism with favorable response to dopaminergic medication Progressive cerebellar ataxia Resting tremor Babinski sign Episodic fever Muscular hypotonia Poor suck Intellectual disability, progressive Abnormality of extrapyramidal motor function Delayed speech and language development Dementia Mutism Abnormality of the eye Fatigue Broad-based gait Limb hypertonia Obsessive-compulsive behavior Abnormality of coordination Behavioral abnormality Abnormality of the vasculature Shuffling gait Strabismus Severe muscular hypotonia Hyperactivity Involuntary movements Inappropriate crying Orofacial dyskinesia Spasticity Stooped posture Brisk reflexes Impulsivity Recurrent pneumonia Difficulty walking Apnea Respiratory tract infection Abnormal cardiac septum morphology Asthma Abnormal lung morphology Infantile muscular hypotonia Respiratory failure Neonatal respiratory distress Athetosis Interstitial pulmonary abnormality Abnormality of the thyroid gland Congenital hypothyroidism Increased thyroid-stimulating hormone level Compensated hypothyroidism Hypothyroidism Recurrent respiratory infections Infantile encephalopathy Central hypotonia Talipes equinovarus Cerebral atrophy Pes cavus Myoclonus Mask-like facies Dysdiadochokinesis Lower limb hyperreflexia Progressive encephalopathy Pneumonia Generalized dystonia Night sweats Decreased CSF homovanillic acid Skeletal muscle atrophy Ventricular septal defect Respiratory insufficiency Atrial septal defect Stridor Migraine Nasal speech Senile plaques Slow saccadic eye movements Hyperactive deep tendon reflexes Ophthalmoparesis Fasciculations Muscle cramps Mental deterioration Cerebral cortical atrophy Hyporeflexia Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Obesity Auditory hallucinations Paranoia Lewy bodies Kinetic tremor Neurofibrillary tangles Orthostatic hypotension Hallucinations Memory impairment Hypotension Weight loss Tetraplegia Episodic quadriplegia Loss of consciousness Hemiplegia Hemiparesis Tetraparesis Status epilepticus Abnormal cortical gyration Supranuclear ophthalmoplegia Poor head control Abnormal posturing Spastic tetraparesis Postnatal microcephaly Dyskinesia Abnormality of the foot Transient hyperphenylalaninemia Excessive daytime somnolence Small for gestational age Generalized-onset seizure Abnormality of the nervous system Microcephaly Retrocollis Personality disorder Craniofacial dystonia Weak voice Cerebral white matter atrophy Torsion dystonia Emotional lability Dysphonia Apraxia Inability to walk Unsteady gait Cerebellar atrophy Headache Abnormal cell morphology Cerebellar Purkinje layer atrophy Spinal cord posterior columns myelin loss Abnormality of the spinocerebellar tracts Abnormality of the substantia nigra Olivopontocerebellar hypoplasia Thyroid dysgenesis


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