Myopathy, and Atopic dermatitis

Diseases related with Myopathy and Atopic dermatitis

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

Top matches:

Medium 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

Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Other less relevant matches:

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

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

HYPERLIPOPROTEINEMIA, TYPE I Is also known as lpl deficiency|hyperchylomicronemia, familial|lipase d deficiency|lipd deficiency|lipoprotein lipase deficiency|hyperlipemia, essential familial|chylomicronemia, familial|hyperlipemia, idiopathic, burger-grutz type|hyperlipoproteinemia, type ia

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Pain
  • Anemia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE I

Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Top 5 symptoms//phenotypes associated to Myopathy and Atopic dermatitis

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Ichthyosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Myalgia Anemia Areflexia Skeletal muscle atrophy Hepatosplenomegaly Elevated hepatic transaminase Proximal muscle weakness Eczema Generalized hypotonia Congestive heart failure Diarrhea Alopecia Hepatic steatosis Cardiomyopathy Fatigue Recurrent infections Intellectual disability Hearing impairment Pain Growth delay Cataract Ptosis Failure to thrive Global developmental delay Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Neurological speech impairment Stroke Nail dysplasia Erythema Pneumonia Exercise intolerance Hypohidrosis Thrombocytopenia Ataxia Jaundice Mitochondrial myopathy Progressive proximal muscle weakness Dyspnea Psoriasiform dermatitis Dilated cardiomyopathy Microcephaly Nausea and vomiting Nephrotic syndrome Strabismus Purpura Pancreatitis Hyperlipidemia Hypertriglyceridemia Obesity Easy fatigability Achilles tendon contracture Delayed puberty Memory impairment Migraine Hypotelorism Prominent nose Skin rash Nausea Hyperhidrosis Papule Progressive muscle weakness Abnormality of the liver Lymphadenopathy Scoliosis Headache Depressivity Stroke-like episode Visual impairment Gait disturbance Hypertonia Abnormality of the dentition Vomiting Abdominal pain Muscular hypotonia Seizures Hypertelorism Diabetes mellitus Dysarthria Immunodeficiency Dementia Nystagmus Hyperreflexia Asplenia Subarachnoid hemorrhage Abnormality of the musculature Abnormality of coagulation Cochlear malformation Abnormal mitochondrial shape Hypocalcemia Progressive night blindness Abnormality of the cerebellar vermis Abnormal thrombocyte morphology Epistaxis Cochlear degeneration Dyslexia Congenital miosis Edema of the dorsum of hands Waddling gait Gowers sign Spotty hypopigmentation Crohn's disease Fasciculations Insulin resistance Paronychia Abnormal mitochondrial morphology Miosis Distal muscle weakness Difficulty walking Abnormal bleeding Upgaze palsy Abnormal platelet morphology Increased mean platelet volume Increased muscle fatiguability Paralytic ileus Intermittent diarrhea Bruising susceptibility Morphological abnormality of the inner ear Bilateral intracranial calcifications Asthma Hemeralopia Morphological abnormality of the vestibule of the inner ear Hemolytic anemia Autoimmunity Prominent ear helix Episodic quadriplegia Pharyngitis Gastrointestinal inflammation Pyelonephritis Difficulty running Recurrent pharyngitis Severe failure to thrive Leukocytosis Hypoplasia of dental enamel Recurrent pneumonia Limb muscle weakness Amelogenesis imperfecta Psychotic episodes Deeply set eye High forehead Severe short stature Dilatation Abnormal cochlea morphology Recurrent lower respiratory tract infections Hypoplasia of the iris Recurrent bacterial infections Episodic fever Homonymous hemianopia Autoimmune hemolytic anemia Abnormality of acid-base homeostasis Anhidrosis Sarcoma Abnormality of dental enamel Abnormal macular morphology Thick upper lip vermilion Neck muscle weakness Episodic abdominal pain Acute pancreatitis Chills Hyperlipoproteinemia Hypocholesterolemia Precocious atherosclerosis Foam cells Impaired proprioception Peritonitis Acanthocytosis Peripheral arterial stenosis Steatorrhea Intestinal bleeding Glucose intolerance Back pain EMG: myopathic abnormalities Hypercholesterolemia Atherosclerosis Abdominal distention Retinopathy Pallor Irritability Splenomegaly Hypersplenism Chronic pancreatitis Erysipelas Inflammatory abnormality of the skin Sunken cheeks Comedo Folliculitis Follicular hyperkeratosis Abnormal eyebrow morphology Absent eyelashes Aplasia/Hypoplasia of the skin Epiphora Spinal muscular atrophy Sparse eyebrow Hypotrichosis Eruptive xanthomas Scarring Arthritis Pectus excavatum Lactescent serum Abnormality of vitamin metabolism Increased hepatocellular lipid droplets Pancreatic calcification Increased circulating chylomicron concentration Lipemia retinalis Recurrent pancreatitis Mottled pigmentation Thin eyebrow Increased muscle lipid content Prominent nasal bridge Narrow face Progressive microcephaly Broad-based gait Esotropia Underdeveloped nasal alae Thick eyebrow Long face Smooth philtrum Synophrys Small for gestational age Short philtrum Brisk reflexes Blepharophimosis Sparse hair Postnatal growth retardation Telecanthus Muscular hypotonia of the trunk Pes cavus Intellectual disability, severe Wide nasal bridge Delayed speech and language development Spasticity Short chin Renal Fanconi syndrome Poikiloderma Generalized ichthyosis Heat intolerance Raynaud phenomenon Scleroderma Truncal obesity Pulmonary fibrosis Clubbing Telangiectasia Fine hair Hypopigmentation of the skin Flexion contracture Decreased plasma carnitine Microtia Congenital nonbullous ichthyosiform erythroderma Subcapsular cataract Abnormality of blood and blood-forming tissues Congenital ichthyosiform erythroderma Erythroderma Ectropion Scaling skin Aortic regurgitation Everted lower lip vermilion Muscular dystrophy Tubulointerstitial abnormality Tubulointerstitial nephritis Abnormal nerve conduction velocity Peripheral axonal neuropathy Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polyneuropathy Nephropathy Hirsutism Polymicrogyria Lactic acidosis Vertigo Sudden cardiac death Confusion Paresthesia Dysmetria Anal atresia Malabsorption Carious teeth Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Generalized myoclonic seizures Sensory impairment Pruritus Psychosis Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Status epilepticus Increased serum lactate Pulmonary arterial hypertension Type II diabetes mellitus Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Cerebral visual impairment Short neck Arrhythmia Visual loss Encephalopathy Cerebral atrophy Renal insufficiency Kyphosis Dystonia Cerebellar atrophy Blindness Respiratory distress Respiratory insufficiency Delayed skeletal maturation Ventriculomegaly Dysphagia Tremor Optic atrophy Fever Peripheral neuropathy Hypertension Motor delay Feeding difficulties Cognitive impairment Hyporeflexia Constipation Nyctalopia Photophobia Protruding ear Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Apnea Hypertrophic cardiomyopathy Proteinuria Anxiety EEG abnormality Gastroesophageal reflux Cerebellar hypoplasia Acidosis Hypothyroidism Autism Weight loss Gait ataxia Cerebral cortical atrophy Hypogonadism Osteoporosis Myoclonus Rod-cone dystrophy Hallucinations Clonus Auditory hallucinations Hypoparathyroidism Visual hallucinations Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Heart block Wolff-Parkinson-White syndrome Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Increased CSF lactate Cerebral ischemia Rhabdomyolysis Episodic vomiting Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Abnormality of the renal tubule Reduced consciousness/confusion Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Anterior hypopituitarism Gait imbalance Thyroiditis Hyperthyroidism Cardiac arrest Mutism Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Hyperkinesis Goiter Schizophrenia Hypopigmented skin patches Aortic aneurysm Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Macular degeneration Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Hemiplegia Abnormality of mitochondrial metabolism Basal ganglia calcification Bundle branch block Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Adrenal insufficiency Hyponatremia Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Abnormal perifollicular morphology


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