Ptosis, and Abnormal pyramidal sign

Diseases related with Ptosis and Abnormal pyramidal sign

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 28


Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.

SPINOCEREBELLAR ATAXIA TYPE 28 Is also known as sca28

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 28

Medium match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

Medium match AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1


AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1 Is also known as spax1

Related symptoms:

  • Seizures
  • Ptosis
  • Hyperreflexia
  • Tremor
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1

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Other less relevant matches:

Medium match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2


Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

Medium match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B


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

Medium match AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA


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

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2


Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 Is also known as progressive external ophthalmoplegia, autosomal recessive 2

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Pain
  • Ptosis
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2

Medium match SPINOCEREBELLAR ATAXIA 7; SCA7


Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Medium match SPINOCEREBELLAR ATAXIA TYPE 36


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

Medium match BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE


Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Top 5 symptoms//phenotypes associated to Ptosis and Abnormal pyramidal sign

Symptoms // Phenotype % cases
Babinski sign Very Common - Between 80% and 100% cases
Dysarthria Very Common - Between 80% and 100% cases
Dysphagia Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ptosis and Abnormal pyramidal sign. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertonia

Uncommon Symptoms - Between 30% and 50% cases


Gait ataxia Generalized hypotonia Tremor Nystagmus Parkinsonism Rigidity Dystonia Seizures Ophthalmoplegia Abnormality of eye movement Cerebellar atrophy Spasticity Gait disturbance Global developmental delay Slow saccadic eye movements Muscular hypotonia of the trunk Fever Irritability Encephalopathy Dysmetria Intellectual disability Limb ataxia Head tremor Limb dystonia External ophthalmoplegia

Rare Symptoms - Less than 30% cases


Excessive salivation Hyperhidrosis Constipation Skeletal muscle atrophy Respiratory insufficiency Motor delay Olivopontocerebellar atrophy Feeding difficulties Amyotrophic lateral sclerosis Abnormality of mitochondrial metabolism Neurodegeneration Dementia Areflexia Peripheral neuropathy Postural instability Lethargy Hypokinesia Bradykinesia Progressive neurologic deterioration Blurred vision Abnormality of extrapyramidal motor function Incoordination Drooling Cerebral atrophy Neuronal loss in central nervous system Intellectual disability, mild Oculogyric crisis Opisthotonus Hearing impairment Fatigue Muscle weakness Ophthalmoparesis Memory impairment Cognitive impairment Behavioral abnormality Depressivity Lower limb hyperreflexia Abnormality of movement Dysdiadochokinesis Difficulty walking Pes cavus Spastic paraplegia Lower limb spasticity Craniofacial dystonia Retinal degeneration Acute encephalopathy Dyskinesia Abnormality of the basal ganglia Progressive cerebellar ataxia Cogwheel rigidity Chorea Progressive visual loss Morphological abnormality of the pyramidal tract Loss of speech Atrophy/Degeneration affecting the brainstem Pigmentary retinopathy Paraplegia Tongue atrophy Retinopathy Mental deterioration Reduced visual acuity Schizophrenia Visual loss Blindness Optic atrophy Failure to thrive Progressive ophthalmoplegia Progressive external ophthalmoplegia Bundle branch block Right bundle branch block Exercise intolerance Progressive muscle weakness Increased serum lactate Macular degeneration Mutism Focal impaired awareness seizure Limb myoclonus Migraine Intention tremor Abnormality of the nervous system Diplopia Respiratory failure Fasciculations Unsteady gait Attention deficit hyperactivity disorder Truncal ataxia Loss of Purkinje cells in the cerebellar vermis Progressive hearing impairment Bowel incontinence Cerebellar vermis atrophy Hand tremor Impaired smooth pursuit Vertigo Spinocerebellar atrophy Bilateral ptosis Spinocerebellar tract degeneration Tongue fasciculations Paraparesis Tetraparesis Status epilepticus Macular dystrophy Generalized-onset seizure Bipolar affective disorder Focal-onset seizure Supranuclear ophthalmoplegia Coma Inability to walk Confusion Paralysis Facial palsy Orofacial dyskinesia Limb tremor Abnormal cerebellum morphology Hyperkinesis Myalgia Impaired proprioception Spastic gait Generalized amyotrophy Impaired vibration sensation in the lower limbs Abnormal eyelid morphology Supranuclear gaze palsy Spastic dysarthria Spastic ataxia Inferior vermis hypoplasia Abnormality of the cerebrospinal fluid Leg muscle stiffness Jerky head movements Sensorineural hearing impairment Myopathy Hyporeflexia Cerebral cortical atrophy Abnormality of ocular abduction Retrocerebellar cyst Ragged-red muscle fibers Neurological speech impairment Gaze-evoked nystagmus Kinetic tremor Dysmetric saccades Short stature Ventriculomegaly Absent speech Pes planus Polyneuropathy Functional motor deficit Esotropia Intellectual disability, profound Horizontal nystagmus Hypometric saccades Difficulty standing Gaze-evoked horizontal nystagmus Limb dysmetria Proximal muscle weakness Akinesia Elevated serum creatine phosphokinase Brisk reflexes Delayed speech and language development Talipes equinovarus Respiratory distress Myoclonus Postural tremor Mask-like facies Central hypotonia Infantile encephalopathy Progressive encephalopathy Generalized dystonia Focal dystonia Night sweats Parkinsonism with favorable response to dopaminergic medication Decreased CSF homovanillic acid Pain Hyperphenylalaninemia Limb hypertonia Bulbar palsy Abnormality of the eye Frontotemporal dementia Pseudobulbar signs Frontal lobe dementia Strabismus Muscular hypotonia Hyperactivity Anxiety Choreoathetosis Episodic fever Involuntary movements Intellectual disability, progressive Severe muscular hypotonia Torticollis Poor suck Obsessive-compulsive behavior Impulsivity Focal motor seizures



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