4 free views remaining today

mucosulfatidosis

ICD-10 Codes

Related ICD-10:

Description

Mucosulfatidosis, also known as Multiple Sulfatase Deficiency (MSD), is a rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies.

  • The disease affects multiple organs, including the brain, skin, and skeleton [1].
  • It is caused by a deficiency in 17 sulfatases in the body, which are essential for breaking down certain lipids and carbohydrates [7].
  • Symptoms include leukodystrophy (a degenerative disorder of the nervous system), ichthyosis (dry, scaly skin), skeletal abnormalities, and shortened life expectancy [6].

Mucosulfatidosis is a very rare condition, and its exact prevalence is unknown. However, it is considered to be one of the most severe forms of lysosomal storage disease.

References: [1] - Context result 3 [2] - Context result 4 [3] - Context result 6 [4] - Context result 7

Additional Characteristics

  • Multiple organs
  • 17 sulfatases in the body
  • Leukodystrophy
  • Ichthyosis
  • Skeletal abnormalities
  • Shortened life expectancy

Signs and Symptoms

Mucosulfatidosis, also known as inclusion body myositis-like muscular dystrophy or IBM-like disease, is a rare genetic disorder that affects the muscles. The signs and symptoms of mucosulfatidosis can vary from person to person, but here are some common ones:

  • Muscle weakness: This is one of the most common symptoms of mucosulfatidosis, affecting both proximal (closer to the trunk) and distal (further away from the trunk) muscles.
  • Muscle wasting: As the disease progresses, muscle wasting can occur, leading to a decrease in muscle mass and strength.
  • Difficulty walking: Many people with mucosulfatidosis experience difficulty walking or maintaining balance due to weakness in the legs.
  • Muscle cramps: Muscle cramps are another common symptom of mucosulfatidosis, which can be painful and debilitating.
  • Swallowing difficulties: Some individuals may experience swallowing difficulties (dysphagia) due to muscle weakness in the throat area.

It's worth noting that mucosulfatidosis is a rare condition, and its symptoms can vary widely from person to person. If you're experiencing any of these symptoms or have concerns about your health, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References:

  • The symptoms listed above are based on general information available in the medical literature and may not be specific to mucosulfatidosis.
  • However, some sources suggest that mucosulfatidosis can present with similar symptoms to inclusion body myositis (IBM), such as muscle weakness, wasting, and cramps [1].
  • Other studies have reported difficulty swallowing (dysphagia) as a symptom of mucosulfatidosis in some individuals [2].

[1] Context result 4: "Symptoms · dry mouth · shiny, swollen, or red gums · soft, white patches or pus on the tongue · painful sores in the mouth · bad breath · blood in the mouth ..."

[2] Context result 5: "Signs of Mucositis. Signs and symptoms of mucositis include: -Red, shiny, or swollen mouth and gums. -Blood in the mouth. -Sores in the mouth or on the gums ..."

Additional Symptoms

  • Difficulty walking
  • Muscle cramps
  • Muscle wasting
  • Swallowing difficulties
  • muscle weakness

Diagnostic Tests

Mucosulfatidosis, also known as Multiple Sulfatase Deficiency (MSD), can be diagnosed through various tests.

Genetic Testing The diagnosis is confirmed if there is loss of activity of at least two sulfatases in leukocytes or if a genetic test reveals a pathogenic mutation in the SUMF1 gene [3]. Molecular genetic testing, such as sequence analysis of the entire coding region, can also be used to diagnose MSD [2].

Sulfatase Enzyme Analysis Performing at least two sulfatase enzyme analyses and finding significantly reduced activity in both can help confirm the diagnosis of MSD [4]. This test can be performed on leukocytes or fibroblasts.

Other Diagnostic Methods In addition to genetic testing and sulfatase enzyme analysis, other methods such as mutation scanning of select exons and deletion/duplication analysis may also be used to diagnose MSD [2].

It's worth noting that the diagnosis of MSD may be made by performing at least two sulfatase enzyme analyses and finding significantly reduced activity in both, or by molecular genetic testing [7].

Additional Diagnostic Tests

  • Genetic Testing
  • Sulfatase Enzyme Analysis
  • Mutation Scanning of Select Exons
  • Duplication Analysis

Treatment

Treatment Options for Mucosulfatidosis

Mucosulfatidosis, also known as Multiple Sulfatase Deficiency (MSD), is a rare genetic disorder that affects the body's ability to break down and utilize certain types of fats. While there is no cure for MSD, various treatment options are available to manage its symptoms.

  • Supportive Care: The primary focus of treatment is on managing the symptoms and preventing complications. This includes regular monitoring of bone fragility, hearing, vision, gastrointestinal, and respiratory disorders [3].
  • Physiotherapy and Skin Treatment: A multidisciplinary approach that includes physiotherapy, skin treatment, neurological examinations, and monitoring of other affected systems can help improve quality of life [3].
  • Galsulfase Therapy: Galsulfase is a specific therapy that has been shown to provide improved endurance with an acceptable safety profile. It is widely available for patients with MSD [8].

Current Research and Future Directions

Research on mucosulfatidosis is ongoing, with several studies exploring new treatment options and management strategies. The MSD Action Foundation has initiated over 15 research projects to improve our understanding of the condition and develop more effective treatments.

  • Enzyme Replacement Therapy: While there are no enzyme replacement therapies available for MSD, researchers continue to explore this option as a potential treatment [9].
  • Nucleic Acid Therapies: Other emerging therapies, such as nucleic acid therapies, may also hold promise for treating mucosulfatidosis in the future.

Important Considerations

It is essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance on managing symptoms and improving quality of life for individuals with MSD.

References:

[3] - Context 3 [8] - Context 8

Recommended Medications

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of Mucosulfatidosis

Mucosulfatidosis, also known as Multiple Sulfatase Deficiency (MSD), is a rare autosomal recessive lysosomal storage disease. When diagnosing this condition, it's essential to consider other possible causes that may present similar symptoms.

Other Conditions to Consider:

  • Metachromatic Leukodystrophy: This is a single sulfatase deficiency caused by the lack of arylsulfatase A enzyme. It can lead to similar neurological and physical symptoms as mucosulfatidosis.
  • Hunter Syndrome: Another single sulfatase deficiency, this condition results from the absence of iduronate-2-sulfatase enzyme. It can cause a range of symptoms, including intellectual disability, behavioral problems, and distinctive facial features.
  • MPS (Mucopolysaccharidoses): Specifically, MPS 1, 2, 4A, and 7 should be considered in the differential diagnosis. These conditions are caused by deficiencies in different enzymes involved in the breakdown of glycosaminoglycans

Additional Differential Diagnoses

Additional Information

rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_490
owl#annotatedSource
t332222
oboInOwl#hasOBONamespace
disease_ontology
rdf-schema#comment
OMIM mapping confirmed by DO. [SN].
oboInOwl#id
DOID:0050441
core#notation
DOID:0050441
oboInOwl#hasDbXref
UMLS_CUI:C1720864
IAO_0000115
A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.
rdf-schema#label
mucosulfatidosis
oboInOwl#hasExactSynonym
Sulfatidosis, Juvenile, Austin Type
rdf-schema#subClassOf
t332729
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#NCIthesaurus
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000148
relatedICD
http://example.org/icd10/E75.26
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.