Autoimmunity, and Muscle cramps

Diseases related with Autoimmunity and Muscle cramps

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


Top matches:

Low match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

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Other less relevant matches:

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1C


Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).

PSEUDOHYPOPARATHYROIDISM TYPE 1C Is also known as php ic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1C

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match ACETAZOLAMIDE-RESPONSIVE MYOTONIA


Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).

ACETAZOLAMIDE-RESPONSIVE MYOTONIA Is also known as painful myotonia|acetazolamide-responsive congenital myotonia|acz-responsive congenital myotonia|painful congenital myotonia|myotonia-painful contractions syndrome|acz-responsive myotonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Hypertonia
  • Hypothyroidism
  • Myalgia


SOURCES: ORPHANET MENDELIAN

More info about ACETAZOLAMIDE-RESPONSIVE MYOTONIA

Low match AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8


Related symptoms:

  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia
  • Areflexia
  • Pneumonia


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8

Low match HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2


Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2

Low match HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE


Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE Is also known as hereditary motor and sensory neuropathy, proximal type, formerly|hmsnp, formerly|hmsnp|hereditary motor and sensory neuropathy, proximal type

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE

Top 5 symptoms//phenotypes associated to Autoimmunity and Muscle cramps

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Paresthesia Uncommon - Between 30% and 50% cases
Prolonged QT interval Uncommon - Between 30% and 50% cases
Hypocalcemia Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Muscle cramps. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hyporeflexia Short stature Basal ganglia calcification Short neck Depressivity Hyperphosphatemia Anxiety Cerebral calcification Nystagmus Chest pain Intellectual disability Dyspnea Hypoplasia of dental enamel Diabetes mellitus Hypothyroidism Obesity Dysphagia Calcinosis Myoclonic spasms Cognitive impairment Depressed nasal bridge Pituitary resistance to thyroid hormone Brachydactyly Low urinary cyclic AMP response to PTH administration Type I diabetes mellitus Hypergonadotropic hypogonadism Abdominal symptom Hypocalcemic tetany Irritability Elevated circulating parathyroid hormone level Hypocalcemic seizures Pseudohypoparathyroidism Delayed eruption of teeth Full cheeks Laryngeal dystonia Round face Short metacarpal Growth hormone deficiency Tetany Increased bone mineral density Autoimmune antibody positivity Conjunctivitis Muscle weakness Hypogonadism Myotonia Areflexia Tremor Hypoparathyroidism Thyroiditis Confusion Constipation Ophthalmoparesis Gait disturbance EMG abnormality Skeletal muscle atrophy Hypertension

Rare Symptoms - Less than 30% cases


Pigmentary retinopathy Nausea Fatigue Hypertonia Primary adrenal insufficiency Nausea and vomiting Elevated serum creatine phosphokinase Ophthalmoplegia Malabsorption Peripheral axonal neuropathy Polyneuropathy Abnormality of the liver Photophobia Sensory impairment Myalgia Peripheral neuropathy Dysarthria Short 5th metacarpal Hypopigmented skin patches Vitiligo Chronic mucocutaneous candidiasis Osteoporosis Short metatarsal Polyphagia Oligomenorrhea Short 4th metacarpal Constrictive median neuropathy Prolactin deficiency Rod-cone dystrophy Ectopic ossification Short 3rd metacarpal Short fifth metatarsal Broad distal phalanx of the thumb Choroid plexus calcification Osteoma cutis Sensorineural hearing impairment Involuntary movements Hearing impairment Growth delay Adrenal insufficiency Generalized-onset seizure Diarrhea Goiter Amyotrophic lateral sclerosis Tetraplegia Fasciculations Neuronal loss in central nervous system Distal muscle weakness Abnormality of peripheral nerve conduction Proximal muscle weakness Renal insufficiency Hashimoto thyroiditis Reduced bone mineral density Weight loss Pneumonia Abnormality of the dentition Mildly elevated creatine phosphokinase Anemia Hyperthyroidism Rhabdomyolysis Hyperreflexia Hyperkalemia Vomiting Visual impairment Hand tremor Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Proximal amyotrophy Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Drowsiness Bulbar palsy Overlapping toe Multiple lipomas Axonal degeneration Decreased number of peripheral myelinated nerve fibers Glomerulopathy Pulmonary embolism Progressive sensorineural hearing impairment Vertebral fusion Visual field defect Bundle branch block Distal arthrogryposis Bilateral ptosis Dysphasia Vestibular dysfunction Aphasia Abnormality of lipid metabolism Abnormality of immune system physiology Hemiplegia Easy fatigability Hypercalciuria Hemiparesis Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Decreased body weight Hypertrichosis Degeneration of anterior horn cells Cardiac arrest Atrial fibrillation Ventricular hypertrophy Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Clonus Areflexia of lower limbs Decreased nerve conduction velocity Mutism Cachexia Bulbar signs Atrioventricular block Chronic kidney disease Growth abnormality Abnormality of visual evoked potentials Hyperkinesis Schizophrenia Ischemic stroke Truncal ataxia Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Hypogonadotrophic hypogonadism Generalized hirsutism Atopic dermatitis Transient ischemic attack Neonatal hypoglycemia Abnormality of the cardiovascular system Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Progressive muscle weakness Spontaneous hematomas Crohn's disease Leber optic atrophy Persistence of primary teeth Writer's cramp Postural tremor Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Abnormality of the cerebellar vermis Hemeralopia Abnormality of the renal tubule Cochlear degeneration Abnormality of acid-base homeostasis Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Homonymous hemianopia Abnormal cochlea morphology Morphological abnormality of the inner ear Paralytic ileus Abnormal mitochondrial shape Progressive night blindness Abnormal macular morphology Prominent ear helix Skeletal muscle hypertrophy Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Respiratory failure Paronychia Spotty hypopigmentation Episodic vomiting Hemianopia Xerostomia Renal tubular dysfunction Hyperlipidemia Spinal muscular atrophy Wolff-Parkinson-White syndrome Sensory axonal neuropathy Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Aortic dissection Gliosis Facial diplegia Cardiorespiratory arrest Delusions Episodic quadriplegia Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Peripheral demyelination Sensory neuropathy Ileus Reduced consciousness/confusion Proximal tubulopathy Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Cerebral ischemia Distal sensory impairment Morphological abnormality of the pyramidal tract Hypoglycemia Postnatal growth retardation Febrile seizures Chronic fatigue Laryngospasm Babinski sign Pes cavus Gastroparesis Arrhythmia Amenorrhea Abnormality of the fingernails Metaphyseal dysplasia Macular atrophy Abnormality of the thyroid gland Diabetes insipidus Constriction of peripheral visual field Cholelithiasis Opacification of the corneal stroma Sinusitis Chronic sinusitis Chronic diarrhea Hepatitis Dehydration Hypotension Otitis media Decreased antibody level in blood Hypotrichosis Skin rash Increased circulating cortisol level Adrenal hyperplasia Retinopathy Alopecia areata Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Salt craving Chronic active hepatitis Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Female hypogonadism Chronic hepatitis Keratoconjunctivitis Antinuclear antibody positivity Gastritis Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Achalasia Abnormality of the cerebral vasculature Asplenia Pallor Strabismus Hypomagnesemia Shortened PR interval Impaired myocardial contractility Postprandial hyperglycemia Abnormality of muscle fibers Periodic paralysis Urinary retention Graves disease Heat intolerance Ventricular fibrillation Periodic hypokalemic paresis Hypokalemia Muscle stiffness Palpitations Tachycardia Lower limb muscle weakness Paralysis Proptosis Hyperhidrosis Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Rigidity Dyskinesia Reduced visual acuity Alopecia Abnormal facial shape Cortical subperiosteal resorption of humeral metaphyses Increased bone density with cystic changes Diaphyseal sclerosis Ectopic calcification Hyperparathyroidism Thyrotoxicosis with toxic multinodular goitre Late-onset proximal muscle weakness Thyrotoxicosis with toxic single thyroid nodule Transient hypophosphatemia Decreased urinary potassium Episodic hypokalemia Thyrotoxicosis with diffuse goiter Second degree atrioventricular block Episodic flaccid weakness Respiratory paralysis Abnormality of the skeletal system Choreoathetosis Specific learning disability Erythema Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Neurological speech impairment Stroke Attention deficit hyperactivity disorder Nyctalopia Protruding ear Arthrogryposis multiplex congenita Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Apnea Hypertrophic cardiomyopathy Proteinuria EEG abnormality Lethargy Congenital cataract Gastroesophageal reflux Coma Hip dysplasia Memory impairment Increased serum lactate Migraine Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Nephropathy Carious teeth Hirsutism Polymicrogyria Lactic acidosis Vertigo Ichthyosis Dysmetria Anal atresia Delayed puberty Jaundice Acidosis Thickened calvaria Hypertelorism Fever Hepatomegaly Motor delay Feeding difficulties Ptosis Pain Muscular hypotonia Failure to thrive Ataxia Ventriculomegaly Microcephaly Global developmental delay Broad 1st metacarpal Hyperostosis frontalis interna Elevated calcitonin Abnormal platelet function Band keratopathy Spinal cord compression Optic atrophy Respiratory insufficiency Autism Encephalopathy Gait ataxia Cerebral cortical atrophy Abdominal pain Myoclonus Dementia Cerebellar hypoplasia Delayed skeletal maturation Visual loss Cerebral atrophy Respiratory distress Headache Kyphosis Dystonia Congestive heart failure Cerebellar atrophy Myopathy Blindness Cardiomyopathy Atrophy of the spinal cord



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