Ptosis, and Myoclonus

Diseases related with Ptosis and Myoclonus

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

Top matches:

Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20 Is also known as coxpd20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20

6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY Is also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY

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

Other less relevant matches:

Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. There is phenotypic and biochemical evidence of mitochondrial dysfunction (summary by Duis et al., 2016).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY

Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 36 Is also known as sca36|asidan

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 36

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.

EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME Is also known as autosomal recessive spastic ataxia type 5|afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|spax5

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME

Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Low match NEUROBLASTOMA

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.

FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with amyotrophic lateral sclerosis|ftd-mnd|ftdmnd|ftd-als|amyotrophic lateral sclerosis and/or frontotemporal dementia|alsftd|frontotemporal dementia and/or motor neuron

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Top 5 symptoms//phenotypes associated to Ptosis and Myoclonus

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Parkinsonism Babinski sign Skeletal muscle atrophy Abnormality of extrapyramidal motor function Rigidity Hypertonia Bradykinesia Muscle weakness Generalized hypotonia Delayed speech and language development Global developmental delay Microcephaly Apraxia Tremor Oculogyric crisis Excessive salivation Nystagmus Motor delay Cognitive impairment Abnormality of eye movement Spasticity Hyperreflexia Chorea

Rare Symptoms - Less than 30% cases

Focal dystonia Olivopontocerebellar atrophy Drooling Postural tremor Oculomotor apraxia Dysmetria Generalized dystonia Neurodegeneration Hearing impairment Cerebellar atrophy Fasciculations Neuronal loss in central nervous system Gait disturbance Peripheral neuropathy Truncal ataxia Distal muscle weakness Generalized myoclonic seizures Dysdiadochokinesis Athetosis Irritability Muscular hypotonia of the trunk Gait ataxia Fever Intellectual disability Depressivity Pallor Choreoathetosis Clonus Hyperkinesis Hyperhidrosis Agitation Opisthotonus Pain Drowsiness Feeding difficulties Behavioral abnormality Talipes equinovarus Intellectual disability, mild Cerebral atrophy Amyotrophic lateral sclerosis Diarrhea Transient hyperphenylalaninemia Abdominal mass Muscle stiffness Abnormal autonomic nervous system physiology Opsoclonus Adrenal calcification Ganglioneuroblastoma Horner syndrome Cerebral palsy Neoplasm of the nervous system Limb hypertonia Ganglioneuroma Hyperphenylalaninemia Paraganglioma Hypomimic face Temperature instability Hypersomnia Neurofibromas Hypertension Anemia Bone pain Abnormality of the thorax Failure to thrive Cafe-au-lait spot Neuroblastoma Abnormality of the nose Neoplasm Spinal cord compression Weight loss Skin nodule Excessive daytime sleepiness Abdominal pain Abnormality of the tongue Paraparesis Elevated urinary dopamine Supranuclear gaze palsy Generalized amyotrophy Bulbar palsy Neurofibrillary tangles Bipolar affective disorder Delusions Frontotemporal dementia Abnormal lower motor neuron morphology Visual hallucinations Disinhibition Alzheimer disease Degeneration of the lateral corticospinal tracts Perseveration Abnormal upper motor neuron morphology Dyscalculia Motor neuron atrophy Abnormal mitochondrial morphology Extrapyramidal dyskinesia Neuronal loss in the cerebral cortex Global brain atrophy Emotional lability Elevated urinary catecholamines Gliosis Elevated urinary homovanillic acid Elevated urinary vanillylmandelic acid Hyporeflexia Dementia Respiratory failure Proximal muscle weakness Limb muscle weakness Progressive cerebellar ataxia Brain atrophy Impulsivity Memory impairment Bilateral sensorineural hearing impairment Psychosis Tetraparesis Hallucinations Involuntary movements Mutism Apathy Personality changes Horizontal nystagmus Tongue atrophy Progressive neurologic deterioration Cerebral visual impairment Night sweats Parkinsonism with favorable response to dopaminergic medication Decreased CSF homovanillic acid Respiratory insufficiency Abnormality of the eye Apnea Delayed myelination Leukoencephalopathy Central hypotonia Abnormality of mitochondrial metabolism Developmental stagnation Progressive leukoencephalopathy Difficulty walking Attention deficit hyperactivity disorder Vertigo Migraine Progressive encephalopathy Limb dystonia Lower limb spasticity Poor head control Abnormal facial shape Ophthalmoplegia External ophthalmoplegia Progressive external ophthalmoplegia Muscular hypotonia Falls Hypsarrhythmia Restlessness Lower limb hyperreflexia Respiratory distress Encephalopathy Constipation Pes cavus Lethargy Mask-like facies Brisk reflexes Hypokinesia Intention tremor Limb ataxia Sleep disturbance Growth delay Sensorimotor neuropathy Spastic paraparesis Demyelinating peripheral neuropathy Spastic dysarthria Spastic ataxia Increased intramyocellular lipid droplets Abnormal mitochondria in muscle tissue Hyperactivity Distal amyotrophy Anxiety Aggressive behavior Abnormal pyramidal sign Small for gestational age Abnormality of movement Poor speech Dyskinesia Spastic gait Peripheral axonal neuropathy Diplopia Slow saccadic eye movements Progressive hearing impairment Incoordination Blurred vision Bowel incontinence Cerebellar vermis atrophy Hand tremor Impaired smooth pursuit Head tremor Lower limb muscle weakness Tongue fasciculations Loss of Purkinje cells in the cerebellar vermis Limb myoclonus Pneumonia Cerebellar hypoplasia EEG abnormality Mental deterioration Generalized tonic-clonic seizures Weakness due to upper motor neuron dysfunction


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