Myopathy, and Autoimmunity

Diseases related with Myopathy and Autoimmunity

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

Top matches:

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

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Other less relevant matches:

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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

ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD Is also known as acc1 deficiency|acaca deficiency

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Myopathy


SOURCES: MESH OMIM MENDELIAN

More info about ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD

Top 5 symptoms//phenotypes associated to Myopathy and Autoimmunity

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Muscle weakness Sensorineural hearing impairment Muscular hypotonia Short stature Skeletal muscle atrophy Generalized hypotonia Global developmental delay Motor delay Diarrhea Hypertelorism Pain Cataract Nystagmus Cognitive impairment Hashimoto thyroiditis Delayed skeletal maturation Multiple lipomas Areflexia Neurological speech impairment Kyphosis Frontal bossing Macrocephaly Scoliosis Hypopigmented skin patches Telangiectasia Decreased antibody level in blood Depressivity Delayed speech and language development Failure to thrive Hypertrichosis Growth delay Neoplasm Nephrotic syndrome Anemia Recurrent bacterial infections

Rare Symptoms - Less than 30% cases

Bronchitis Polymicrogyria Nausea and vomiting Micrognathia Hypothyroidism Headache Autism Chronic otitis media Pectus excavatum Tremor Macrotia Lymphoma Broad thumb Cellulitis Lymphopenia Abnormal cerebellum morphology Rod-cone dystrophy Thyroiditis Fever Fatigue Dilatation Hyperthyroidism Encephalopathy Dementia Tall stature Weight loss Arthritis Malabsorption Goiter Otitis media Chronic diarrhea Subcutaneous nodule Cerebral atrophy Intellectual disability, mild Myopia Dysmetria Mental deterioration Anxiety Hepatomegaly Hyperreflexia Dysarthria Optic atrophy Macroglossia Gait disturbance Ventriculomegaly Short neck Gait ataxia Hydrocephalus Cerebellar atrophy Abnormality of the dentition Confusion Hamartomatous polyposis Cachexia Multiple cafe-au-lait spots Intracranial hemorrhage Aortic aneurysm Cutis marmorata Delusions Increased intracranial pressure Hallucinations Hamartoma Intestinal polyposis Gingival overgrowth Lipoma Psychosis Type II diabetes mellitus Hip dysplasia Meningioma Arteriovenous malformation Narrow palate Hydrocele testis Pneumonia Feeding difficulties Glomerulopathy Arthrogryposis multiplex congenita Easy fatigability Ptosis Low-set ears High palate Dysphagia Generalized hirsutism Hyporeflexia Recurrent respiratory infections Gastroesophageal reflux Kyphoscoliosis Proximal muscle weakness Recurrent pneumonia Pectus carinatum Hypertension Ophthalmoplegia Thrombocytopenia Proteinuria Alopecia Diabetes mellitus Motor polyneuropathy Hirsutism Hepatosplenomegaly Nephropathy Muscle fiber atrophy Hypertrophic cardiomyopathy Developmental regression Amenorrhea Cerebral calcification Feeding difficulties in infancy Pigmentary retinopathy Apnea Increased serum lactate Myalgia Protruding ear EEG abnormality Abnormality of the cardiovascular system Photophobia Generalized-onset seizure Jaundice Acidosis Dyspnea Cerebral cortical atrophy Abdominal pain Bilateral sensorineural hearing impairment Hypogonadism Abnormality of the pinna Abnormality of the liver Erythema Peripheral axonal neuropathy Migraine Sensory impairment Specific learning disability Sudden cardiac death Generalized myoclonic seizures Muscle cramps Postural instability Coma Polyneuropathy Nausea Lactic acidosis Vertigo Memory impairment Ichthyosis Paresthesia Anal atresia Delayed puberty Congenital cataract Lethargy Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Stroke Attention deficit hyperactivity disorder Nyctalopia Carious teeth Cerebellar hypoplasia Osteoporosis Colonic diverticula Papilloma Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Subcutaneous lipoma Cavernous hemangioma Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Intestinal polyp Thyroid adenoma Varicocele Enlarged polycystic ovaries Long penis Endometrial carcinoma Prolactin excess Ovarian neoplasm Hodgkin lymphoma Renal cell carcinoma Scaphocephaly Abnormality of the vasculature Papilledema Skin tags Cellular immunodeficiency Megalencephaly Furrowed tongue Abnormality of the uterus Astrocytoma Ovarian cyst Bone cyst Follicular thyroid carcinoma Colorectal polyposis Myoclonus Hypertonia Respiratory insufficiency Respiratory distress Cardiomyopathy Blindness Vomiting Congestive heart failure Dystonia Visual impairment Renal insufficiency Visual loss Arrhythmia Elevated serum creatine phosphokinase Constipation Status epilepticus Peripheral neuropathy Microcephaly Progressive macrocephaly Cutis marmorata telangiectatica congenita Pseudopapilledema Mucosal telangiectasiae Acrokeratosis Transitional cell carcinoma of the bladder Neoplasm of the thyroid gland Fibroadenoma of the breast Enlarged cerebellum Lobular carcinoma in situ Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Pulmonary arterial hypertension Central sleep apnea Ventricular hypertrophy Reduced consciousness/confusion Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Cerebral ischemia Psychomotor deterioration Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Dysesthesia Writer's cramp Xerostomia Abnormal mitochondrial morphology Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Paronychia Persistence of primary teeth Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Heart block Vitiligo Atrial fibrillation Macular degeneration Hypercalciuria Decreased nerve conduction velocity Atrioventricular block Chronic kidney disease Growth abnormality Hyperkinesis Schizophrenia Mutism Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Purpura Hemiplegia Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism EMG abnormality Truncal ataxia Cardiac arrest Clonus Acute myeloid leukemia Abnormality of retinal pigmentation Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Hemiparesis Bilateral ptosis Abnormality of mitochondrial metabolism Neonatal hypoglycemia Hyperkalemia Abnormality of visual evoked potentials Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Rhabdomyolysis Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Prolonged QT interval Visual field defect Dysphasia Hyponatremia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency 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 Cerebral visual impairment Cranial nerve paralysis Cystic hygroma Joint laxity Loss of truncal subcutaneous adipose tissue Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Progressive loss of facial adipose tissue Loss of subcutaneous adipose tissue from upper limbs Capillary hemangioma Irregular hyperpigmentation Pes cavus Polyhydramnios Delayed gross motor development Lymphedema Difficulty walking Nevus Neoplasm of the breast Wide nose Joint hyperflexibility Dolichocephaly Hypoglycemia Long face Long philtrum Short nose Anteverted nares Distal amyotrophy Generalized muscle weakness Esotropia Waddling gait Cyanosis Visceral angiomatosis Decreased serum complement C3 Diplopia Glomerulonephritis Malar flattening Splenomegaly Hepatic steatosis Behavioral abnormality Hematuria Intellectual disability, severe Hypertriglyceridemia Insulin resistance Talipes equinovarus Abnormality of the skeletal system Polycystic ovaries Lipodystrophy Premature ovarian insufficiency Lipoatrophy Subcutaneous hemorrhage Epicanthus Depressed nasal bridge Abnormality of lipid metabolism Spasticity Microscopic hematuria Progeroid facial appearance Strabismus Lymphocytosis Membranoproliferative glomerulonephritis Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Decreased fetal movement Enteroviral hepatitis Hernia Limb-girdle muscle weakness Stridor Sepsis Neutropenia Toe walking Skin rash Retinopathy Bulbar palsy Spinal rigidity Weak cry Fatigable weakness Neck muscle weakness Central hypotonia Obstructive sleep apnea Distal lower limb muscle weakness Hepatitis Respiratory arrest Spinal deformities Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Nasal regurgitation Sudden episodic apnea Staring gaze Nasal speech Abnormal lung morphology Enteroviral dermatomyositis syndrome Congenital hip dislocation Lymph node hypoplasia Prostatitis Epididymitis Abnormality of the tonsils Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Myelopathy Cor pulmonale Agammaglobulinemia Glossoptosis Microretrognathia Recurrent urinary tract infections Osteomyelitis EMG: myopathic abnormalities Rheumatoid arthritis Encephalitis Recurrent skin infections Poor head control Conjunctivitis Hypocalcemia Meningitis Skin ulcer Sinusitis Dysphonia Poor suck Midface retrusion Inguinal hernia Abnormality of the thyroid gland Decreased pulmonary function Atrial septal defect Hypohidrosis Downslanted palpebral fissures Brachydactyly Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Generalized abnormality of skin Eczema Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Hypoplasia of dental enamel Narrow mouth Abnormal cornea morphology Cafe-au-lait spot Macule Melanocytic nevus Hand polydactyly Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Breast carcinoma Melanoma Hemangioma Drooling EEG with polyspike wave complexes Neoplasm of the skin Gynecomastia Exotropia Nail dysplasia Intention tremor Overgrowth Lymphadenopathy Hypoplasia of the maxilla Palmoplantar keratoderma Hemolytic anemia Joint hypermobility Asthma Papule Leukemia Abnormality of the kidney Intellectual disability, moderate Carcinoma Synovitis Abnormality of the rib cage Babinski sign Intermittent diarrhea Hypoplasia of the iris Optic disc pallor Peripheral demyelination Amelogenesis imperfecta Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Recurrent lower respiratory tract infections Neurodegeneration Highly arched eyebrow Thick eyebrow Retinal degeneration Genu valgum Episodic fever Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Corneal opacity Broad forehead Respiratory tract infection Umbilical hernia Coarse facial features Skeletal dysplasia Osteopenia Mandibular prognathia Arthralgia Prominent forehead Pancytopenia Depressed nasal ridge Craniofacial hyperostosis Neurodevelopmental delay Spondylolisthesis Abnormality of the helix Reduced ejection fraction Dysostosis multiplex Impaired smooth pursuit Abnormality of dental enamel Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Thickened calvaria Abnormality of the sternum Femoral bowing Bowel incontinence Progressive neurologic deterioration Open bite Bowing of the legs Flat occiput Heart murmur Prominent supraorbital ridges Sarcoma Widely spaced teeth Low anterior hairline Spastic gait Anhidrosis Limb ataxia Autoimmune hemolytic anemia Amblyopia Bowing of the long bones Prominent ear helix


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