Ptosis, and Fatigue

Diseases related with Ptosis and Fatigue

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


Top matches:

High match MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Medium match MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). 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. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10 Is also known as myasthenic myopathy, formerly|cms ib, formerly|lgm, formerly|myasthenia, limb-girdle, familial, formerly|cms1b, formerly|congenital myasthenic syndrome type ib, formerly

Related symptoms:

  • Strabismus
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10

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

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Other less relevant matches:

Medium match MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21


Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21

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 MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Medium match BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE


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

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 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 GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY


Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.

GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY Is also known as glycogenosis type xii|red cell aldolase deficiency|gsd type xii|gsd type 12|gsd xii|aldolase deficiency, red cell|aldoa deficiency|gsd due to aldolase a deficiency|glycogen storage disease type 12|glycogenosis type 12|glycogen storage disease type xii|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY

Top 5 symptoms//phenotypes associated to Ptosis and Fatigue

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

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

Uncommon Symptoms - Between 30% and 50% cases


Ophthalmoplegia External ophthalmoplegia Depressivity Ataxia Parkinsonism Ophthalmoparesis Gowers sign Exercise intolerance Proximal muscle weakness Feeding difficulties Respiratory insufficiency Facial palsy

Rare Symptoms - Less than 30% cases


Limb dystonia Intellectual disability Increased muscle fatiguability Flexion contracture Oculogyric crisis Babinski sign Rigidity Cognitive impairment Dystonia Myalgia Seizures Abnormality of eye movement Muscular hypotonia of the trunk Global developmental delay Hyperreflexia Hyperhidrosis Gait disturbance Hypertonia Tremor Ragged-red muscle fibers Anxiety Hearing impairment Muscle cramps Difficulty walking Respiratory distress Skeletal muscle atrophy Bulbar palsy Strabismus Easy fatigability Proximal amyotrophy Motor delay Limb muscle weakness Hyporeflexia Severe muscular hypotonia Excessive salivation Normocytic anemia Abnormality of movement Nonspherocytic hemolytic anemia Postural instability Bradykinesia Hyperphenylalaninemia Progressive neurologic deterioration Choreoathetosis Infantile encephalopathy Limb hypertonia Intellectual disability, progressive Episodic fever Hypokinesia Opisthotonus Impulsivity Obsessive-compulsive behavior Cholecystitis Poor suck Hyperkinesis Drooling Involuntary movements Torticollis Spherocytosis Elevated serum creatine phosphokinase Rhabdomyolysis Abnormal pupil morphology Jaundice Splenomegaly Delayed puberty Short neck Hepatomegaly Epicanthus Anemia Growth delay Short stature Weakness of the intrinsic hand muscles Type 2 muscle fiber atrophy Hemolytic anemia Irritability Hyporeflexia of lower limbs Exercise-induced myalgia Cholelithiasis Muscle stiffness Respiratory tract infection Nyctalopia Lower limb muscle weakness Falls Frequent falls Progressive muscle weakness Elbow flexion contracture Areflexia of lower limbs Increased variability in muscle fiber diameter Centrally nucleated skeletal muscle fibers Low posterior hairline Difficulty running Limb-girdle muscle weakness Achilles tendon contracture Lethargy Dyskinesia Abnormality of the eye Apnea Cataract Frontal lobe dementia Pseudobulbar signs Frontotemporal dementia Amyotrophic lateral sclerosis Akinesia Abnormality of mitochondrial metabolism Cerebral cortical atrophy Dementia Areflexia Sensorineural hearing impairment Knee flexion contracture Nystagmus Obesity Multiple mitochondrial DNA deletions Progressive external ophthalmoplegia Bilateral ptosis Gait ataxia Glaucoma Fatigable weakness Abnormality of the immune system Mildly elevated creatine phosphokinase Respiratory insufficiency due to muscle weakness Decreased fetal movement Waddling gait Distal amyotrophy High palate Cardiomyopathy Acidosis Hyperactivity Stridor Constipation Encephalopathy Behavioral abnormality Fever Spasticity Muscular hypotonia Abnormality of coordination Inappropriate crying Stooped posture Orofacial dyskinesia Shuffling gait Hypomimic face Abnormality of the vasculature Dysdiadochokinesis Hypertrophic cardiomyopathy Nasal speech Poor head control Spastic tetraparesis Abnormal autonomic nervous system physiology Postnatal microcephaly Sleep disturbance Abnormality of the foot Skeletal myopathy Mitochondrial myopathy Dysphonia Generalized muscle weakness Lactic acidosis Congenital cataract Normochromic anemia



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