Ptosis, and Hyporeflexia

Diseases related with Ptosis and Hyporeflexia

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


Top matches:

Medium match MYASTHENIC SYNDROME, CONGENITAL, 17; CMS17


Related symptoms:

  • Muscle weakness
  • Ptosis
  • Feeding difficulties
  • Hyporeflexia
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 17; CMS17

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 Is also known as progressive external ophthalmoplegia, autosomal dominant 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Ptosis
  • Dysarthria
  • Fatigue


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5

Medium match MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5 Is also known as endplate acetylcholinesterase deficiency|ead|cms1c, formerly|engel congenital myasthenic syndrome|cms ic, formerly|congenital myasthenic syndrome type ic, formerly|myasthenic syndrome, congenital, engel type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5

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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 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18


Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Medium match MYOPATHY, TUBULAR AGGREGATE, 1; TAM1


Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate MyopathySee also TAM2 (OMIM ), caused by mutation in the ORAI1 gene (OMIM ) on chromosome 12q24.

MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 Is also known as tubular aggregate myopathy|myopathy, tubular aggregate|tam

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Dysarthria
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, TUBULAR AGGREGATE, 1; TAM1

Medium match CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME


Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Is also known as cdfe syndrome|cortical dysplasia-focal epilepsy syndrome|cdfes

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E

Medium match FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE


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

Medium match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


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 Hyporeflexia

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Fatigue Ophthalmoparesis Hearing impairment Limb muscle weakness Proximal muscle weakness

Rare Symptoms - Less than 30% cases


Areflexia Babinski sign Dementia Rigidity Type 2 muscle fiber atrophy Parkinsonism Seizures Amyotrophic lateral sclerosis Bulbar palsy Frontotemporal dementia Distal muscle weakness Global developmental delay Abnormal facial shape Absent speech EEG abnormality Focal-onset seizure Generalized-onset seizure Loss of consciousness Motor delay Flexion contracture Easy fatigability External ophthalmoplegia Gait ataxia Difficulty walking Respiratory insufficiency Skeletal muscle atrophy Ophthalmoplegia Scoliosis Depressivity Paralysis Ulnar claw Nemaline bodies Distal lower limb amyotrophy Increased connective tissue Bruxism Cognitive impairment Hypotrophy of the small hand muscles Tremor Behavioral abnormality Dystonia Hyperventilation Cerebral atrophy Myoclonus Respiratory failure Impaired social interactions Steppage gait Unilateral ptosis Respiratory distress Facial palsy Distal amyotrophy Hyperkeratosis Pes cavus Neurodegeneration Split hand Foot dorsiflexor weakness Abnormality of the hand Decreased motor nerve conduction velocity Peripheral neuropathy High palate Congenital contracture Hammertoe Impaired vibratory sensation Progressive language deterioration Flared nostrils Distal sensory impairment Hallucinations Progressive cerebellar ataxia Olivopontocerebellar atrophy Neurofibrillary tangles Bipolar affective disorder Delusions Abnormal lower motor neuron morphology Visual hallucinations Supranuclear gaze palsy Focal dystonia Disinhibition Global brain atrophy 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 Generalized amyotrophy Alzheimer disease Gliosis Apraxia Chorea Brain atrophy Memory impairment Neuronal loss in central nervous system Bradykinesia Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Psychosis Emotional lability Tetraparesis Language impairment Fasciculations Paraparesis Mutism Apathy Personality changes Impulsivity Cortical dysplasia Short stature Delayed gross motor development Encephalopathy Cerebral cortical atrophy Ragged-red muscle fibers Abnormality of mitochondrial metabolism Akinesia Pseudobulbar signs Frontal lobe dementia Downslanted palpebral fissures High forehead Prolonged miniature endplate currents Respiratory tract infection Highly arched eyebrow Epileptic encephalopathy Cyanosis Absence seizures Drooling Cavum septum pellucidum Sensorineural hearing impairment Decreased size of nerve terminals Laterally extended eyebrow Multiple mitochondrial DNA deletions Feeding difficulties Glaucoma Anxiety Exercise intolerance Bilateral ptosis Progressive external ophthalmoplegia Increased muscle fatiguability Muscular hypotonia EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Feeding difficulties in infancy Hyperlordosis Generalized muscle weakness Respiratory insufficiency due to muscle weakness Decreased muscle mass Abnormality of the immune system Weak cry Fatigable weakness Thick corpus callosum Elevated serum creatine phosphokinase Reduced tendon reflexes Apnea Spasticity Intellectual disability, severe Cerebellar hypoplasia Hyperactivity Coarse facial features Abnormality of the nervous system Aggressive behavior Developmental regression Weakness of the intrinsic hand muscles Autistic behavior Wide mouth Neurological speech impairment Poor speech Thick vermilion border Hypertrichosis Stereotypy Intellectual disability Hyporeflexia of lower limbs Myalgia Elbow flexion contracture Nyctalopia Lower limb muscle weakness Falls Muscle cramps Frequent falls Progressive muscle weakness Muscle stiffness Gowers sign Abnormal pupil morphology Increased variability in muscle fiber diameter Centrally nucleated skeletal muscle fibers Difficulty running Proximal amyotrophy Limb-girdle muscle weakness Achilles tendon contracture Areflexia of lower limbs Exercise-induced myalgia Weakness due to upper motor neuron dysfunction



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