Myopathy, and Ophthalmoplegia

Diseases related with Myopathy and Ophthalmoplegia

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


Top matches:

Low match OCULOPHARYNGEAL MUSCULAR DYSTROPHY


Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.

OCULOPHARYNGEAL MUSCULAR DYSTROPHY Is also known as opmd

Related symptoms:

  • Ptosis
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Ophthalmoplegia
  • Ragged-red muscle fibers


SOURCES: ORPHANET MENDELIAN

More info about OCULOPHARYNGEAL MUSCULAR DYSTROPHY

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 Is also known as progressive external ophthalmoplegia, autosomal dominant 2

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2

Low 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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Low match MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12


Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 Is also known as myasthenic syndrome, congenital, with tubular aggregates 1|cmsta1

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12

Low match MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A


Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A

Low match NEMALINE MYOPATHY 10; NEM10


Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 10; NEM10

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3 Is also known as progressive external ophthalmoplegia, autosomal recessive 3

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

Low match LETHAL INFANTILE MITOCHONDRIAL MYOPATHY


Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.

LETHAL INFANTILE MITOCHONDRIAL MYOPATHY Is also known as limd|limm|lethal infantile mitochondrial disease

Related symptoms:

  • Myopathy
  • Lactic acidosis
  • Lethal infantile mitochondrial myopathy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL INFANTILE MITOCHONDRIAL MYOPATHY

Low match MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A


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, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003).Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). Genetic Heterogeneity of Congenital Myasthenic SyndromesRecessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (OMIM ) are caused by mutation in the CHRNA1 gene (OMIM ); CMS2A (OMIM ) and CMS2C (OMIM ) are caused by mutation in the CHRNB1 gene (OMIM ) on 17p12; CMS3A (OMIM ), CMS3B (OMIM ), and CMS3C (OMIM ) are caused by mutation in the CHRND gene (OMIM ) on 2q33; and CMS4A (OMIM ), CMS4B (OMIM ), and CMS4C (OMIM ) are caused by mutation in the CHRNE gene (OMIM ) on 17p13.CMS5 (OMIM ) is caused by mutation in the COLQ gene (OMIM ) on 3p25; CMS6 (OMIM ) is caused by mutation in the CHAT gene (OMIM ) on 10q; CMS7 (OMIM ) is caused by mutation in the SYT2 gene (OMIM ) on 1q32; CMS8 (OMIM ) is caused by mutation in the AGRN gene (OMIM ) on 1p; CMS9 (OMIM ) is caused by mutation in the MUSK gene (OMIM ) on 9q31; CMS10 (OMIM ) is caused by mutation in the DOK7 gene (OMIM ) on 4p; CMS11 (OMIM ) is caused by mutation in the RAPSN gene (OMIM ) on 11p11; CMS12 (OMIM ) is caused by mutation in the GFPT1 gene (OMIM ) on 2p14; CMS13 (OMIM ) is caused by mutation in the DPAGT1 gene (OMIM ) on 11q23; CMS14 (OMIM ) is caused by mutation in the ALG2 gene (OMIM ) on 9q22; CMS15 (OMIM ) is caused by mutation in the ALG14 gene (OMIM ) on 1p21; CMS16 (OMIM ) is caused by mutation in the SCN4A gene (OMIM ) on 17q; CMS17 (OMIM ) is caused by mutation in the LRP4 gene (OMIM ) on 11p12; CMS18 (OMIM ) is caused by mutation in the SNAP25 gene (OMIM ) on 20p11; CMS19 (OMIM ) is caused by mutation in the COL13A1 gene (OMIM ) on 10q22; CMS20 (OMIM ) is caused by mutation in the SLC5A7 gene (OMIM ) on 2q12; CMS21 (OMIM ) is caused by mutation in the SLC18A3 gene (OMIM ) on 10q11; and CMS22 (OMIM ) is caused by mutation in the PREPL gene (OMIM ) on 2p21.

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A Is also known as cms iia, formerly|myasthenic syndrome, congenital, type iia, formerly|cms2a, formerly

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A

Low 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

Top 5 symptoms//phenotypes associated to Myopathy and Ophthalmoplegia

Symptoms // Phenotype % cases
Ptosis Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Facial palsy Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Ragged-red muscle fibers Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Ophthalmoplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


External ophthalmoplegia Ophthalmoparesis Dysphagia Generalized muscle weakness Dysarthria Exercise intolerance Progressive external ophthalmoplegia Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases


Feeding difficulties Gowers sign Easy fatigability Mitochondrial myopathy Lactic acidosis Cardiomyopathy Fatigue Fatigable weakness High palate Multiple mitochondrial DNA deletions Increased serum lactate Progressive muscle weakness Hearing impairment Proximal muscle weakness Flexion contracture Progressive proximal muscle weakness Increased connective tissue Respiratory insufficiency due to muscle weakness Bulbar palsy Scapular winging Nemaline bodies Decreased fetal movement Premature birth Arthrogryposis multiplex congenita Polyhydramnios Severe muscular hypotonia Difficulty climbing stairs Decreased activity of mitochondrial respiratory chain Cataract Dysphonia Congenital cataract Hypertrophic cardiomyopathy Myalgia Acidosis Obesity Respiratory distress Cognitive impairment Prolonged miniature endplate currents Lethal infantile mitochondrial myopathy Intermittent episodes of respiratory insufficiency due to muscle weakness Decreased size of nerve terminals Hand muscle atrophy Type 2 muscle fiber atrophy Lower limb muscle weakness Limb muscle weakness Pectus carinatum Scoliosis Respiratory failure EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Respiratory insufficiency Goiter Hyporeflexia Depressivity Ataxia Subsarcolemmal accumulations of abnormally shaped mitochondria Cytochrome C oxidase-negative muscle fibers Hyperthyroidism EMG: myopathic abnormalities Gait ataxia Dementia Sensorineural hearing impairment Abnormality of muscle fibers Abnormality of the pharynx Spondylolisthesis Rimmed vacuoles Mask-like facies Glaucoma Anxiety Generalized hypotonia Short stature Hip contracture High pitched voice Poor head control Narrow face Long face Neonatal hypotonia Proximal amyotrophy Bilateral ptosis Neck muscle weakness Mildly elevated creatine phosphokinase Waddling gait Muscle cramps Hyperlordosis Motor delay Increased muscle fatiguability Skeletal myopathy



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