Myopathy, and Migraine

Diseases related with Myopathy and Migraine

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


Top matches:

Medium match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Medium match LEBER HEREDITARY OPTIC NEUROPATHY


Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.

LEBER HEREDITARY OPTIC NEUROPATHY Is also known as leber optic atrophy|lhon|leber hereditary optic neuropathy

Related symptoms:

  • Ataxia
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER HEREDITARY OPTIC NEUROPATHY

Medium match STORMORKEN-SJAASTAD-LANGSLET SYNDROME


Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

STORMORKEN-SJAASTAD-LANGSLET SYNDROME Is also known as thrombocytopathy-asplenia-miosis syndrome|york platelet syndrome|thrombocytopathy, asplenia, and miosis|yps|stormorken syndrome

Related symptoms:

  • Short stature
  • Muscle weakness
  • Anemia
  • Fatigue
  • Myopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STORMORKEN-SJAASTAD-LANGSLET SYNDROME

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Other less relevant matches:

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match EPISODIC ATAXIA, TYPE 2; EA2


Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Medium match SPINOCEREBELLAR ATAXIA WITH EPILEPSY


Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


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. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Medium match CADASIL


CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Medium match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Medium match MERRF


MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MERRF

Top 5 symptoms//phenotypes associated to Myopathy and Migraine

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Fatigue

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases


Encephalopathy Peripheral neuropathy Elevated serum creatine phosphokinase Depressivity Cardiomyopathy Exercise intolerance Pain Hearing impairment Dysphagia Abnormality of mitochondrial metabolism Visual impairment Dementia Short stature EEG abnormality Proximal muscle weakness Ophthalmoparesis Mental deterioration Gait disturbance Hemiplegia Dysarthria Sensorineural hearing impairment Myalgia Intellectual disability Fever Vertigo Behavioral abnormality Vomiting Rigidity Ophthalmoplegia Developmental regression Motor delay Acidosis Skeletal muscle atrophy Sensory axonal neuropathy Stroke Neurological speech impairment Ragged-red muscle fibers Paresthesia External ophthalmoplegia Status epilepticus Increased serum lactate Brain atrophy Gliosis Progressive external ophthalmoplegia Spasticity Abnormality of eye movement Myoclonus Nausea Stroke-like episode Sensory neuropathy Optic atrophy Mitochondrial myopathy Dystonia Visual loss Arrhythmia Muscular hypotonia Generalized hypotonia Abnormality of movement Muscle cramps Ptosis Cytochrome C oxidase-negative muscle fibers

Rare Symptoms - Less than 30% cases


Progressive cerebellar ataxia Abnormal cerebellum morphology Focal-onset seizure Generalized muscle weakness Cerebral ischemia Left ventricular hypertrophy Aphasia Facial palsy Hypoplasia of the corpus callosum Nystagmus Spastic tetraparesis Subdural hemorrhage Tetraparesis Paralysis Hyperhidrosis Edema EMG: myopathic abnormalities Delayed speech and language development Diplopia Lactic acidosis Bulbar palsy Mildly elevated creatine phosphokinase Bradykinesia Memory impairment Lower limb muscle weakness Apathy Cerebral cortical atrophy Hypogonadism Respiratory insufficiency Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Acute encephalopathy Sensory ataxia Hypoglycemia Generalized tonic-clonic seizures Inability to walk Vestibular dysfunction Coma Bilateral ptosis Progressive hearing impairment Neuronal loss in central nervous system Generalized myoclonic seizures Abnormality of extrapyramidal motor function Increased muscle fatiguability Hyporeflexia Areflexia Cataract Malignant hyperthermia Leukoencephalopathy Gaze-evoked nystagmus Abnormality of the cerebral white matter Rhabdomyolysis Scotoma Hyperkinesis Limb muscle weakness Abnormality of visual evoked potentials Abnormal electroretinogram Incoordination Dilatation Anemia Pallor Wolff-Parkinson-White syndrome Optic neuropathy Purpura Confusion Polyneuropathy Gait ataxia Nausea and vomiting Blindness Attention deficit hyperactivity disorder Pulmonary arterial hypertension Muscle fibrillation Ventricular extrasystoles Hepatic steatosis Recurrent pneumonia Lipoma Hyperthyroidism Truncal ataxia Tetraplegia Urinary incontinence Abnormality of the skin Generalized-onset seizure Hemiparesis Multiple lipomas Hepatitis Right bundle branch block Delayed gross motor development Ventricular tachycardia Peripheral demyelination Global systolic dysfunction EMG abnormality Palpitations Myocardial infarction Psychosis Aciduria Diffuse cerebral atrophy Motor axonal neuropathy Portal fibrosis Mutism Decreased activity of mitochondrial respiratory chain Dysphonia Premature ovarian insufficiency Diffuse cerebellar atrophy Ventricular fibrillation Coronary artery atherosclerosis Increased serum pyruvate Abnormal echocardiogram Abnormality of the thyroid gland Resting tremor Insomnia Bipolar affective disorder Intrahepatic cholestasis Limb-girdle muscle weakness Right ventricular cardiomyopathy Gait imbalance Hypertension Increased CSF lactate Hyperreflexia Hypertonia Supraventricular tachycardia Babinski sign Abnormality of the endocrine system Abnormality of the eye Lacticaciduria Dysmetria Hepatic failure Dyspnea Weakness of facial musculature Failure to thrive Diffuse leukoencephalopathy Focal sensory seizure Retinal arteriolar tortuosity Subcortical dementia Abulia Recurrent subcortical infarcts Nonarteritic anterior ischemic optic neuropathy Abnormality of brainstem morphology Opisthotonus Scintillating scotoma Malnutrition Spastic diplegia Intracranial hemorrhage Encephalitis Abnormal facial shape Subcutaneous hemorrhage Feeding difficulties Cerebral palsy Hepatomegaly Macrocephaly Joint dislocation Large fontanelles Prominent forehead Feeding difficulties in infancy Irritability Choreoathetosis Respiratory tract infection Dehydration Dyskinesia Metabolic acidosis Amaurosis fugax Generalized dystonia Abnormality of the liver Impaired pain sensation Hypertrophic cardiomyopathy Delayed myelination Atherosclerosis Shock Cranial nerve paralysis Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Personality changes Cerebral hemorrhage Glutaric aciduria Retinal hemorrhage Amyloidosis Transient ischemic attack Abnormality of thalamus morphology Dilation of lateral ventricles Ketonuria Mania Perseveration Abnormality of the retinal vasculature EEG with irregular generalized spike and wave complexes EEG with photoparoxysmal response Pseudobulbar paralysis Varicose veins Decreased plasma carnitine Abnormality of nervous system morphology Fasting hypoglycemia Fatty replacement of skeletal muscle Infantile encephalopathy Migraine with aura Sinus tachycardia Distal muscle weakness Bradycardia Central retinal vessel vascular tortuosity Deeply set eye High forehead Severe short stature Thrombocytopenia Reduced OCT-measured macular thickness Abnormality of head blood vessel Marcus Gunn pupil Ichthyosis Centrocecal scotoma Vitritis Plethora Mitochondrial respiratory chain defects Retinal telangiectasia Giant somatosensory evoked potentials Skin rash Bruising susceptibility Slow decrease in visual acuity Asplenia Upgaze palsy Abnormal platelet morphology Increased mean platelet volume Miosis Abnormal thrombocyte morphology Dyslexia Subarachnoid hemorrhage Abnormal bleeding Abnormality of the musculature Abnormality of coagulation Hypocalcemia Epistaxis Hypotelorism Prominent nose Pseudopapilledema Ventricular preexcitation High palate Lethargy Progressive visual loss Abnormality of the nervous system Reduced visual acuity Gastrointestinal dysmotility Abnormal autonomic nervous system physiology Anorexia Photophobia Telangiectasia Autism Abdominal pain Diarrhea Strabismus Growth delay Microcephaly Optic disc pallor Amblyopia Optic neuritis Dyschromatopsia Vascular tortuosity Abnormality of the optic disc Retinal vascular tortuosity Neuritis Leber optic atrophy Osteosarcoma Increased reactive oxygen species production Vasculitis Papilledema Central scotoma Blurred vision Constriction of peripheral visual field Postural tremor Atrioventricular block Congenital miosis Brachydactyly Progressive muscle weakness Limb ataxia Centrally nucleated skeletal muscle fibers Decreased number of peripheral myelinated nerve fibers Axonal degeneration Impotence Increased variability in muscle fiber diameter Cerebral visual impairment Frequent falls Hyperventilation Distal sensory impairment Falls Peripheral axonal neuropathy Dilated cardiomyopathy Weight loss Pes cavus Axonal loss Progressive gait ataxia Downbeat nystagmus Cerebral atrophy Ventricular hypertrophy Amenorrhea Parkinsonism Severe global developmental delay Hypothyroidism Diabetes mellitus Atrophy/Degeneration involving the spinal cord Intestinal pseudo-obstruction Sensory ataxic neuropathy Impaired distal proprioception Impaired distal vibration sensation Muscle fiber necrosis Gastroparesis Positive Romberg sign Pneumonia Saccadic smooth pursuit Splenomegaly Hyperbilirubinemia Decreased mean corpuscular volume Myoglobinuria Progressive encephalopathy Reticulocytosis Acute kidney injury Emotional lability Hemolytic anemia Exercise-induced muscle cramps Retinal dystrophy Muscular dystrophy Hepatosplenomegaly Jaundice Rod-cone dystrophy Renal insufficiency Recurrent myoglobinuria Exercise-induced myoglobinuria Episodic ataxia Sleep apnea Cerebellar vermis atrophy Loss of consciousness Myotonia Focal impaired awareness seizure CNS hypomyelination Tinnitus Horizontal nystagmus Scoliosis Intention tremor Epileptic encephalopathy Postural instability Apnea Cerebellar atrophy Ventriculomegaly Basal ganglia necrosis



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