Muscle weakness, and Eczema

Diseases related with Muscle weakness and Eczema

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

Top matches:

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

Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Other less relevant matches:

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Low match BARTH SYNDROME

Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Muscle weakness and Eczema

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Eczema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Intellectual disability Gait disturbance Lactic acidosis Aciduria Congestive heart failure Hyperammonemia Lethargy Short stature Organic aciduria Feeding difficulties in infancy Acidosis Hypertonia Respiratory distress Alopecia Hepatomegaly Ataxia Neutropenia Thrombocytopenia Immunodeficiency

Rare Symptoms - Less than 30% cases

Vomiting Muscular hypotonia Skin rash Leukemia Skeletal dysplasia Edema Depressed nasal bridge Hypertelorism Hypotrichosis Diarrhea Intellectual disability, severe Metabolic acidosis Specific learning disability Autism Microcephaly Failure to thrive in infancy Feeding difficulties Deeply set eye Macrotia Recurrent aphthous stomatitis Recurrent bacterial infections Sepsis Coma Small for gestational age Osteopenia Nausea and vomiting Perioral eczema Desquamation of skin soon after birth Keratoconjunctivitis Hyperventilation Inflammatory abnormality of the skin Tachypnea Scoliosis Cardiomyopathy Dilated cardiomyopathy Proximal muscle weakness Basal ganglia calcification Myopathy Nephrocalcinosis Elevated hepatic transaminase Optic atrophy Arrhythmia Behavioral abnormality Depressivity Fatigue Abnormality of the mitochondrion Ventricular arrhythmia Ophthalmoplegia Delayed puberty Talipes Full cheeks Sudden cardiac death Round face Hydrops fetalis Spontaneous abortion Exercise intolerance Abnormality of mitochondrial metabolism Easy fatigability 3-Methylglutaconic aciduria Myopathic facies Poor appetite Mitochondrial myopathy Left ventricular noncompaction Hypocholesterolemia Decreased plasma carnitine Left ventricular failure Skeletal myopathy Endocardial fibroelastosis Reduced consciousness/confusion Broad forehead Granulocytopenia Proximal femoral epiphysiolysis Aplastic anemia Recurrent viral infections Acute monocytic leukemia Abnormality of the liver Metaphyseal chondrodysplasia Anterior rib cupping Metaphyseal sclerosis Persistence of hemoglobin F Paroxysmal nocturnal hemoglobinuria Enlargement of the costochondral junction Proximal femoral metaphyseal irregularity Myocardial necrosis Metaphyseal dysostosis Narrow sacroiliac notch Stroke Irregular ossification at anterior rib ends Motor delay Peripheral neuropathy Talipes equinovarus Dilatation Pectus excavatum Abnormal heart morphology Mandibular prognathia Myalgia Hypoglycemia Hypertrophic cardiomyopathy Facial palsy Protruding ear Abnormality of neutrophils Monocytosis Abnormal endocardium morphology Cerebral cortical atrophy Hypopigmentation of the skin Memory impairment Cerebral calcification Hemiplegia Self-injurious behavior Hypopigmentation of hair Lack of skin elasticity Motor deterioration Hyperphenylalaninemia Micrognathia Delayed speech and language development Intrauterine growth retardation Hyperactivity Abnormality of the pinna Ptosis Autistic behavior Severe global developmental delay Bulbous nose Febrile seizures Narrow forehead Hypotelorism Thick lower lip vermilion Hallux valgus Thickened helices Small earlobe Weight loss Irritability Anorexia Paraplegia Attention deficit hyperactivity disorder Prolonged QTc interval Abnormal lung morphology Pyoderma Exocrine pancreatic insufficiency Abnormal mitochondrial morphology Abnormal mitochondrial shape Agranulocytosis Cyclic neutropenia Increased mitochondrial number Recurrent infections in infancy and early childhood Intermittent lactic acidemia Abnormal facial shape Midface retrusion Pneumonia Muscular hypotonia of the trunk Wide anterior fontanel Mental deterioration Hepatosplenomegaly Emphysema Chromosome breakage Mild global developmental delay Prominent superficial veins Bronchiolitis Dermal translucency Abnormality of the thymus Increased sensitivity to ionizing radiation Bronchiolitis obliterans Elevated serum creatine phosphokinase Cataract Hyperreflexia Tremor Ovoid vertebral bodies Short thorax Acute myeloid leukemia Reduced bone mineral density Acute lymphoblastic leukemia Upper limb undergrowth Short 4th metacarpal Abnormality of chromosome segregation Short 5th metacarpal Ectopic calcification Lower limb hypertonia Giant platelets Median cleft palate Folate deficiency Hyposegmentation of neutrophil nuclei Short 3rd metacarpal Hearing impairment Mild short stature Increased intracranial pressure Sensorineural hearing impairment Abnormality of the fingernails Spasticity Myopia Hypocalcemia EMG abnormality Splenomegaly Visual loss Abnormality of the nail Abnormality of the nervous system Apnea Nephrolithiasis Lower limb hyperreflexia Foot dorsiflexor weakness Hypotension Macrocephaly Abnormal renal physiology Abnormal pattern of respiration Increased circulating renin level Writer's cramp Hypocalcemic seizures Cortical myoclonus Laryngospasm Hypermagnesiuria Hyperphosphatemia Hypomagnesemia Hypoparathyroidism Strabismus Irregular hyperpigmentation Frontal bossing Gingival overgrowth Ventricular septal defect Fatigable weakness Abnormality of the dentition Kyphosis Pes cavus Prominent forehead Polydactyly Emotional lability Umbilical hernia Hypokalemia Generalized tonic-clonic seizures Hypercalciuria Recurrent otitis media Developmental regression Muscle cramps Myeloid leukemia Apraxia Delayed skeletal maturation Leukocytosis Respiratory tract infection Pectus carinatum Psoriasiform dermatitis Malabsorption Narrow chest Carious teeth Ichthyosis Generalized muscle weakness Progressive muscle weakness Lymphadenopathy Microdontia Pancytopenia Progressive proximal muscle weakness Abnormality of the metaphysis Decreased liver function Short ribs Bone marrow hypocellularity Type I diabetes mellitus Coxa vara Leukopenia Myelodysplasia Metaphyseal widening Neonatal respiratory distress Tetany Steatorrhea Multiple lipomas Intellectual disability, mild Abnormality of the skeletal system Dry skin Iris hypopigmentation Paresthesia Anxiety Abdominal pain Abnormal cerebellum morphology Generalized myoclonic seizures High myopia Conjunctivitis Recurrent skin infections Urticaria Stridor Visual field defect Infantile spasms Bronchitis Diffuse cerebral atrophy Severe failure to thrive Pharyngitis Seborrheic dermatitis Alcoholism Gastrointestinal inflammation Recurrent fungal infections Diffuse cerebellar atrophy Laryngeal stridor Pyelonephritis Metabolic ketoacidosis Recurrent pharyngitis Decreased biotinidase activity Neoplasm Anemia Congenital lactic acidosis


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