Muscle weakness, and Pruritus

Diseases related with Muscle weakness and Pruritus

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

Top matches:

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).For a discussion of genetic heterogeneity of DUH, see DUH1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Pain
  • Coloboma
  • Pruritus
  • Hypopigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3

Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

Other less relevant matches:

Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

HEREDITARY COPROPORPHYRIA Is also known as cpox deficiency|cpx deficiency|coproporphyrinogen oxidase deficiency|cpo deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Hypertension


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY COPROPORPHYRIA

Low match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005).For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

PEELING SKIN SYNDROME 2; PSS2 Is also known as acral peeling skin syndrome|peeling skin syndrome, acral type|apss

Related symptoms:

  • Hyperhidrosis
  • Erythema
  • Scarring
  • Pruritus
  • Abnormal blistering of the skin


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 2; PSS2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 2; AGS2

Related symptoms:

  • Hyperkeratosis
  • Erythema
  • Pruritus
  • Ichthyosis
  • Scaling skin


SOURCES: OMIM MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14; ARCI14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

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

Symptoms // Phenotype % cases
Dystonia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Muscle stiffness Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatosplenomegaly Cerebral atrophy Spasticity Hepatomegaly Leukodystrophy Cerebral calcification Splenomegaly Encephalopathy Thrombocytopenia Lymphocytosis Microcephaly Anemia Pain Peripheral neuropathy Erythema

Rare Symptoms - Less than 30% cases

Cirrhosis Decreased liver function Leukopenia Vomiting Progressive neurologic deterioration Depressivity Arthralgia Jaundice Anxiety Cutaneous photosensitivity Failure to thrive Psychosis Tremor Growth delay Paralysis Nausea and vomiting Confusion Nausea Scaling skin Hemolytic anemia Hypertonia Abnormal blistering of the skin Edema Paresthesia CSF lymphocytic pleiocytosis Diarrhea Hyperhidrosis Neoplasm Constipation Hyperreflexia Irritability Severe global developmental delay Global developmental delay Abnormality of the cerebral white matter Progressive microcephaly Acute hepatic failure Hypoparathyroidism Hand tremor Nephrocalcinosis Increased reactive oxygen species production Renal tubular dysfunction Schizophrenia Hepatocellular carcinoma Cholelithiasis Esophageal varix Hyperphosphaturia Eczema Neoplasm of the liver Facial paralysis Menstrual irregularities Chondrocalcinosis Abnormality of blood and blood-forming tissues Joint swelling Personality changes Abnormality of the hand Back pain Drooling Leukoencephalopathy Hypercalciuria Abnormality of mitochondrial metabolism Oral-pharyngeal dysphagia Arthropathy Microcytic anemia Global brain atrophy Pathologic fracture Retinoblastoma Glycosuria Osteomalacia Proximal muscle weakness in lower limbs Poor motor coordination Abnormality of the menstrual cycle Knee clonus Clonus Pneumonia Spontaneous abortion Cerebellar atrophy Hydrocephalus Respiratory insufficiency Basal ganglia calcification Chronic CSF lymphocytosis Paraplegia Hyperkeratosis Ichthyosis Congenital ichthyosiform erythroderma Ventriculomegaly Short stature Intrauterine growth retardation Low-set ears Neurodegeneration Apnea Premature osteoarthritis Atypical or prolonged hepatitis Hypocupremia Feeding difficulties Hypersexuality Acute hepatitis High nonceruloplasmin-bound serum copper Mixed demyelinating and axonal polyneuropathy Kayser-Fleischer ring Atrophy/Degeneration affecting the brainstem Convex nasal ridge Scarring Bradycardia Optic atrophy Dilatation Babinski sign Spastic paraplegia Pancytopenia Aminoaciduria Rigidity Increased body weight Hypertrichosis Areflexia Abdominal pain Acidosis Myalgia Tachycardia Metabolic acidosis Hypotension Thin skin Abnormality of metabolism/homeostasis Hallucinations Hyponatremia Hypermelanotic macule Orthostatic hypotension Prolonged neonatal jaundice Fragile skin Insomnia Arrhythmia Behavioral abnormality Ileus Hypopigmentation of the skin Motor delay Abnormal autonomic nervous system physiology Joint dislocation Axonal loss Chronic constipation Pain insensitivity Coloboma Neoplasm of the skin Hypertension Nystagmus Fever Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Delayed myelination Poor head control Hemiplegia Visual hallucinations Auditory hallucinations Bone pain Polyneuropathy Infertility Poor speech Peripheral axonal neuropathy Joint hypermobility Hepatic failure Bruising susceptibility Hepatic steatosis Coma Aggressive behavior Ascites Hepatitis Osteoarthritis Cholestasis Clumsiness Involuntary movements Nephrolithiasis Abnormality of the liver Abnormality of the nervous system Paranoia Intellectual disability Delirium Congenital hemolytic anemia Compensated hemolytic anemia Respiratory paralysis Abdominal colic Red urine Acute episodes of neuropathic symptoms Dysarthria Proteinuria Fatigue Dysphagia Dementia Osteoporosis Weight loss Difficulty walking Arthritis Abnormality of the heme biosynthetic pathway


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