Edema, and Myalgia

Diseases related with Edema and Myalgia

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

Top matches:

Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).

INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME Is also known as otulipenia|oras|otulin deficiency|otulin-related autoinflammatory syndrome

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME

Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000).Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2 ), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; {607115}), which shows earlier onset and a more severe phenotype. Genetic Heterogeneity of Familial Cold Autoinflammatory SyndromeSee also FCAS2 (OMIM ), caused by mutation in the NLRP12 gene (OMIM ) on chromosome 19q13; FCAS3 (OMIM ), caused by mutation in the PLCG2 gene (OMIM ) on chromosome 16q23; and FCAS4 (OMIM ), caused by mutation in the NLRC4 gene (OMIM ) on chromosome 2p22.

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 Is also known as cold urticaria, familial|fcas|cold hypersensitivity|caps1|fcu|cold-induced autoinflammatory syndrome, familial|cryopyrin-associated periodic syndrome 1

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Fever
  • Headache


SOURCES: OMIM MENDELIAN

More info about FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Other less relevant matches:

Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.

MYOTONIA FLUCTUANS Is also known as fluctuating myotonia|exercise-induced delayed-onset myotonia

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA FLUCTUANS

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

FAMILIAL COLD URTICARIA Is also known as fcas|familial cold autoinflammatory syndrome|fcu

Related symptoms:

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL COLD URTICARIA

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E Is also known as beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|lgmd2e|muscular dystrophy, limb-girdle, type 2e

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Gait disturbance
  • Dysphagia
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E

Low match MAJEED SYNDROME

Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Top 5 symptoms//phenotypes associated to Edema and Myalgia

Symptoms // Phenotype % cases
Fever Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Myalgia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dysesthesia Headache Leukocytosis Pain Skin rash

Rare Symptoms - Less than 30% cases

Macroglossia Seizures Gait disturbance Dysphagia Flexion contracture Scapular winging Elevated serum creatine phosphokinase Fatigue Hyperhidrosis Dehydration Generalized hypotonia Myoglobinuria Ptosis Peripheral neuropathy Hypoglycemia Arthritis Hypotension Neonatal hypoglycemia Abnormal facial shape Respiratory distress Cardiomyopathy Muscle weakness Hypertrophic cardiomyopathy Conjunctivitis Splenomegaly Sensorineural hearing impairment Urticaria Amyloidosis Joint swelling Abdominal pain Lymphadenopathy Proteinuria Cough Papule Malabsorption Inflammatory abnormality of the skin Bone pain Cachexia Increased bone mineral density Increased susceptibility to fractures Metaphyseal irregularity Acne Glomerulopathy Pustule Pulmonary infiltrates Weight loss Pelvic girdle muscle atrophy Diarrhea Myopathic facies Waddling gait Palpitations Broad-based gait Immunodeficiency Limb-girdle muscular dystrophy Gowers sign Increased variability in muscle fiber diameter Calf muscle hypertrophy Proximal amyotrophy Reduced muscle fiber beta sarcoglycan Limb-girdle muscle weakness Achilles tendon contracture Axial muscle weakness Pelvic girdle muscle weakness Shoulder girdle muscle atrophy Tip-toe gait Calf muscle pseudohypertrophy Hypochromic microcytic anemia Microscopic hematuria Hepatosplenomegaly Synovitis Narrow face Facial asymmetry Paresthesia Postural instability Bifid uvula Sensory impairment Hypotelorism Hoarse voice Narrow palpebral fissure Blepharophimosis Axonal degeneration Facial paralysis Chronic pain Weak voice Neuritis Peripheral axonal degeneration Cutis gyrata of scalp Radial head subluxation Finger syndactyly Paralysis Congenital hypoplastic anemia Depressed nasal bridge Muscular dystrophy Abnormality of bone marrow cell morphology Chronic recurrent multifocal osteomyelitis Abnormal inflammatory response Short stature Cleft palate Low-set ears Epicanthus Rigidity Skeletal muscle atrophy Abnormality of the skeletal system Syndactyly Depressivity Hyporeflexia Upslanted palpebral fissure Narrow mouth Deeply set eye Dilated cardiomyopathy Arrhythmia Distal muscle weakness Chills Myotonia Skeletal muscle hypertrophy Hyperkalemia Blepharospasm Renal amyloidosis Muscular edema Angioedema Erythema EMG abnormality Pruritus Nausea and vomiting Episodic fever Polydipsia Petechiae Muscular hypotonia High palate Ophthalmoparesis Chest pain Vomiting Elevated C-reactive protein level Falls Pleural effusion Rheumatoid arthritis Elevated erythrocyte sedimentation rate Pericarditis Uveitis Juvenile rheumatoid arthritis Anterior uveitis Muscle cramps Serositis Spasticity Visual loss Visual impairment Hypertonia Cold urticaria Dyspnea Hypertension Nausea Proximal muscle weakness Biventricular hypertrophy Cardiomegaly Bradycardia Exercise intolerance Heart murmur Enlarged kidney Sinus bradycardia Pulmonary edema Shortened PR interval Vasculitis Scoliosis Delayed speech and language development Respiratory insufficiency Scarring Autoimmunity Osteoporosis Difficulty walking Cyanosis Ascites Abnormality of the nervous system Hypothermia Vertigo Syncope Abnormal autonomic nervous system physiology Epiphora Blurred vision Orthostatic hypotension Hearing impairment Recurrent hypoglycemia Lipodystrophy Multiple myeloma Nocturia Intermittent hypothermia Retrograde ejaculation Micrognathia Panniculitis Neutrophilia Congestive heart failure Brachial plexus neuropathy


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