Edema, and Lower limb muscle weakness

Diseases related with Edema and Lower limb muscle weakness

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

Top matches:

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Low match ARGININEMIA

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ARGININEMIA Is also known as arg1 deficiency|arginase deficiency|hyperargininemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ARGININEMIA

Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Other less relevant matches:

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LAMB2-RELATED INFANTILE-ONSET NEPHROTIC SYNDROME

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

Top 5 symptoms//phenotypes associated to Edema and Lower limb muscle weakness

Symptoms // Phenotype % cases
Ataxia Uncommon - Between 30% and 50% cases
Limb muscle weakness Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Seizures Motor delay Visual impairment Generalized hypotonia

Rare Symptoms - Less than 30% cases

Congestive heart failure Coma Tetraplegia Talipes Lethargy Spastic tetraplegia Hyperammonemia Cerebral edema Encephalopathy Muscular hypotonia Behavioral abnormality Respiratory insufficiency Cardiomyopathy Feeding difficulties in infancy Arrhythmia Progressive visual loss Diarrhea Scoliosis Skeletal muscle atrophy Cognitive impairment Ptosis Chronic sinusitis Stroke Elevated hepatic transaminase Mental deterioration Proteinuria Dementia Headache Hydrops fetalis Vomiting Myalgia Hypertonia Pain Intellectual disability, severe Spasticity Focal segmental glomerulosclerosis Sensory impairment Fever Areflexia Sensory neuropathy Pes cavus Global developmental delay Glomerulosclerosis Cataract Hyperreflexia Hepatomegaly Lower limb spasticity Abnormal heart valve morphology Short ribs Aortic valve stenosis Abnormal vertebral morphology Abnormality of retinal pigmentation Thickened skin Abnormality of dental morphology Abnormal form of the vertebral bodies Congenital hip dislocation Recurrent otitis media Lumbar hyperlordosis Abnormality of the ribs Cardiomegaly Microdontia Hip dysplasia Otitis media Elbow flexion contracture Generalized hirsutism Toe walking Arnold-Chiari malformation Heart murmur Chronic otitis media Back pain Coarse hair Easy fatigability Multiple joint contractures Increased intracranial pressure Abnormality of the metacarpal bones Knee flexion contracture Abnormal muscle tone Necrotizing encephalopathy Widely spaced teeth Restrictive ventilatory defect Opacification of the corneal stroma Limitation of joint mobility Exertional dyspnea Coxa valga Abnormality of dental enamel Thick vermilion border Asthma Glaucoma Arthralgia Coarse facial features Skeletal dysplasia Retrognathia Osteopenia Kyphoscoliosis Proptosis Hyperkeratosis Abdominal pain Hepatosplenomegaly Severe short stature Recurrent respiratory infections Constipation Inguinal hernia Hernia Kyphosis Splenomegaly Intellectual disability, mild Abnormality of the dentition Umbilical hernia Conductive hearing impairment Macroglossia Carious teeth Sleep disturbance Arthropathy Wide nose Hirsutism Retinal degeneration Astigmatism Genu valgum Synophrys Hypermetropia Joint stiffness Platyspondyly Dolichocephaly Corneal opacity Pectus carinatum Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Craniosynostosis Polyneuritis Acute encephalopathy Blepharitis Hyperactive deep tendon reflexes Urinary glycosaminoglycan excretion Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Dermatan sulfate excretion in urine Thickened ribs Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Delayed menarche Abnormality of the humeral epiphysis Hernia of the abdominal wall Heparan sulfate excretion in urine Mitral valve calcification J-shaped sella turcica Pneumonia Rigidity Pallor Cough Limited shoulder movement Abnormality of the tonsils Hip subluxation Abnormality of the sella turcica Widely patent coronal suture Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the skull base Exercise-induced muscle stiffness Increased size of nasopharyngeal adenoids Posterior scalloping of vertebral bodies Contractures of the joints of the upper limbs Abnormality of the styloid process of ulna Abnormality of lysosomal metabolism Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Polyneuropathy Abnormality of the gingiva Spinal canal stenosis Dysostosis multiplex Broad ribs Severe vision loss Increased CSF protein Sparse axillary hair Abnormal posturing Communicating hydrocephalus Hydrocele testis Tracheal stenosis Abnormality of the ulna Sparse pubic hair Abducens palsy Hypoplastic iliac wing Diastasis recti Spinal cord compression Obstructive sleep apnea Papilledema Peripheral visual field loss Protuberant abdomen Rhinitis Encephalitis Dilation of lateral ventricles Gliosis Platybasia Abnormality of the optic disc Hallucinations Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Abnormal nerve conduction velocity Wide cranial sutures Carpal bone hypoplasia Foot dorsiflexor weakness Abnormal diaphysis morphology Abnormal cornea morphology Myelopathy Nasal obstruction Shield chest Sagittal craniosynostosis Flared iliac wings Cor pulmonale Anteverted nares Short neck Percussion myotonia Macrocephaly Failure to thrive Muscle cramps Lactic acidosis Dilated cardiomyopathy Small for gestational age Abnormality of the liver Apnea Hypoglycemia Elevated serum creatine phosphokinase Diaminoaciduria Cholestasis Respiratory alkalosis Oroticaciduria Hyperlysinuria Progressive spastic quadriplegia Cystinuria Loss of ability to walk Breathing dysregulation Reduced consciousness/confusion Pigmentary retinopathy Exercise intolerance Loss of consciousness Retinopathy Telangiectasia Hemiparesis Apraxia Memory impairment Migraine Hematuria Nephropathy Cirrhosis Reduced visual acuity Infantile muscular hypotonia Visual loss Dysarthria Neoplasm Prenatal maternal abnormality Recurrent myoglobinuria Abnormality of the amniotic fluid Hypoketotic hypoglycemia Myoglobinuria Rhabdomyolysis Alkalosis Spastic diplegia Leukodystrophy Neutropenia Segmental peripheral demyelination/remyelination Sensory ataxia Onion bulb formation Decreased number of peripheral myelinated nerve fibers Axonal degeneration Steppage gait Frequent falls Peripheral demyelination Distal sensory impairment Segmental peripheral demyelination Distal amyotrophy Falls Peripheral axonal neuropathy Paresthesia Abnormality of the foot Distal muscle weakness Gait ataxia Hyporeflexia Peripheral axonal degeneration Microcephaly Hemiplegia/hemiparesis Nausea Athetosis Tachypnea Cerebral palsy Spastic paraparesis Aminoaciduria Paraparesis Muscle stiffness Anorexia Paraplegia Growth delay Nausea and vomiting Spastic paraplegia Neurological speech impairment Postnatal growth retardation Irritability Developmental regression EEG abnormality Hyperactivity Feeding difficulties Sinusitis Vasculitis Depressed nasal bridge Nonimmune hydrops fetalis Ring fibers Obsessive-compulsive trait Narcolepsy Excessive daytime sleepiness Frontal balding First degree atrioventricular block Testicular atrophy Atrial flutter Facial diplegia Strabismus Heart block Abnormal EKG Neurofibrillary tangles Centrally nucleated skeletal muscle fibers Thin ribs Alzheimer disease Myotonia Cholelithiasis Nystagmus Myopia Ventricular tachycardia Congenital nephrotic syndrome Abnormal facial shape Sensorineural hearing impairment Micrognathia Hypertelorism Hearing impairment Short stature Microcoria Limited extraocular movements Miosis Renal insufficiency Congenital nystagmus Neurodevelopmental delay Chronic kidney disease Nephrotic syndrome Retinal detachment Abnormality of skin pigmentation Stage 5 chronic kidney disease Abnormality of the kidney Proximal muscle weakness Atrioventricular block Intellectual disability, progressive Leukoencephalopathy Micronodular cirrhosis Diminished ability to concentrate Progressive forgetfulness Focal white matter lesions Vasculitis in the skin Retinal exudate Central nervous system degeneration Limb pain Retinal hemorrhage Abnormality of the retinal vasculature Delayed speech and language development Brain neoplasm Macular edema Raynaud phenomenon Aseptic necrosis Abnormality of the periventricular white matter Glomerulopathy Lower limb hyperreflexia Elevated erythrocyte sedimentation rate Punctate vasculitis skin lesions Dysphagia Spontaneous abortion Tachycardia Cardiac arrest Insulin resistance Progressive muscle weakness Atrial fibrillation Decreased fetal movement Mitral valve prolapse Premature birth Brain atrophy Unsteady gait Respiratory distress Muscular dystrophy Neonatal hypotonia Polyhydramnios Respiratory failure Cerebral cortical atrophy Hypogonadism Dilatation Cerebral atrophy Myopathy Acute necrotizing encephalopathy


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