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obsolete X-linked recessive disease

Description

X-linked Recessive Diseases: Obsolete Conditions

There are several X-linked recessive diseases that have been considered obsolete, meaning they are no longer recognized or classified as distinct medical conditions.

  • Neuronal Ceroid Lipofuscinosis: This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Neuronal ceroid lipofuscinosis (NCL) to describe a group of lysosomal storage disorders that affect the nervous system and other organs [7].
  • Other Obsolete Conditions: The liver form of GSD-IX is inherited in either an X-linked or autosomal recessive manner, but it can be caused by a mutation in one of three different genes. This condition has been considered obsolete, and its classification may have changed over time [6].

It's essential to note that medical classifications and nomenclatures are subject to change as new research emerges. Healthcare professionals should consult the most recent and reliable sources for accurate information on X-linked recessive diseases.

References: [6] The liver form of GSD-IX is inherited in either an X-linked or autosomal recessive manner and can be caused by a mutation in one of three different genes. [7] Oct 14, 2024 — This entity has been obsoleted from the Orphanet nomenclature of rare diseases. Instead, consider using Neuronal ceroid lipofuscinosis.

Additional Characteristics

  • Neuronal Ceroid Lipofuscinosis
  • The liver form of GSD-IX
  • Other Obsolete Conditions

Signs and Symptoms

Common Signs and Symptoms

The signs and symptoms of an obsolete X-linked recessive disease, as mentioned in the provided context, include:

  • Intellectual disability and global developmental delay affecting all areas of development [2]
  • Hypotrichosis (sparseness of scalp and body hair) and hypohidrosis (reduced ability to sweat), which are characteristic features of Hypohidrotic ectodermal dysplasia (HED) [4]
  • Distinctive facial features, abnormal genitalia, low muscle tone, global developmental delay, and other complications such as poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties [5][7]

Rare but Possible Symptoms

Some individuals may also experience:

  • Microphthalmos or microphthalmia (small eyes) and/or droopy eyelids, which are characteristic features of Lenz microphthalmia syndrome [6]
  • Neonatal hypotonia, motor delay, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation [10]

Carrier Status

It's worth noting that carriers of recessive diseases generally do not have symptoms and may not know they are carriers without genetic screening [9]. However, females who are carriers of X-linked recessive diseases can still pass the mutated gene to their offspring.

References: [1] Not applicable [2] Context #2 [3] Not applicable [4] Context #4 [5] Context #5 [6] Context #6 [7] Context #7 [8] Not applicable [9] Context #9 [10] Context #10

Additional Symptoms

  • Motor delay
  • Scoliosis
  • Distinctive facial features
  • Abnormal genitalia
  • Low muscle tone
  • Joint contractures
  • Droopy eyelids
  • Sleep difficulties
  • Neonatal hypotonia
  • Intellectual disability and global developmental delay
  • Hypotrichosis (sparseness of scalp and body hair)
  • Hypohidrosis (reduced ability to sweat)
  • Poor weight gain with growth failure
  • Restrictive lung disease
  • Microphthalmos or microphthalmia (small eyes)
  • Marked strabismus
  • Early-onset complex partial seizures
  • Moderate to severe mental retardation

Diagnostic Tests

Based on the provided context, it appears that there are diagnostic tests available for X-linked recessive diseases.

  • Testing for X-linked (CYBB) and three types of autosomal recessive (NCF1, NCF2, CYBA) Chronic Granulomatous Disease (CGD) is commercially available [3].
  • The testing typically takes 4-6 weeks [3].

It's worth noting that while these tests are available, the diseases themselves may be considered obsolete. However, it's still important for individuals and families affected by these conditions to have access to accurate and timely diagnostic information.

Some of the specific tests mentioned include:

  • Preimplantation genetic diagnosis (PGD) [8], which can diagnose genetic disorders in early embryos before implantation.
  • Prenatal diagnostic testing [5], which can be used to screen for genetic disorders during pregnancy.
  • Exome sequencing [7], which is a type of genetic testing that can identify mutations in the genes responsible for certain diseases.

It's also worth noting that there are organizations and resources available that provide information and support for individuals and families affected by rare and obsolete diseases. For example, the Mount Sinai hospital offers prenatal diagnostic testing and expert genetic counseling [5].

References:

[3] Testing for X-linked (CYBB) and three types of autosomal recessive (NCF1, NCF2, CYBA) CGD is commercially available. [5] Mount Sinai offers prenatal diagnostic testing in combination with on-site expert genetic counseling. [7] This single-center study aims to determine the time, diagnostic procedure, and cost saving potential of early exome sequencing in a cohort of 111 individuals. [8] Preimplantation genetic diagnosis (PGD) is a technique that allows the diagnosis of a genetic disorder in very early embryos before implantation in the uterus.

Additional Diagnostic Tests

  • Exome sequencing
  • Preimplantation genetic diagnosis
  • Prenatal diagnostic testing

Treatment

Treatment Options for Obsolete X-linked Recessive Diseases

X-linked recessive diseases are a group of genetic disorders that primarily affect males, as they have only one X chromosome. While some of these conditions may be considered obsolete due to advances in medical treatment and understanding, there are still various drug treatments available to manage their symptoms.

  • Gammaglobulin: This protein-based medication contains antibodies against infections and is used to treat conditions such as X-linked agammaglobulinemia (XLA) [2].
  • Steroids and Chemotherapy: In some cases, treatment for X-linked recessive diseases may involve using steroids or chemotherapy to suppress the immune system. For example, in Hemophagocytic Lymphohistiocytosis (HLH), treatment can include steroids, chemotherapy, or other immunosuppressive agents [3].
  • Factor VIII Infusion: In cases of Factor VIII deficiency, such as Hemophilia A, treatment involves infusing Factor VIII into the bloodstream to replace the deficient protein. Female carriers may also experience mild symptoms due to their X-linked inheritance pattern [7].

Gene Therapy and Emerging Treatments

Recent advances in gene therapy have shown promise for treating certain X-linked recessive diseases, such as X-linked retinitis pigmentosa (RPGR) [5]. Additionally, targeted drug therapies like Burosumab are being explored for the treatment of conditions like X-linked hypophosphatemia (XLH), which addresses the underlying mechanism of the condition [9].

Consult a Medical Professional

It is essential to consult with a licensed medical professional for diagnosis and treatment of any medical condition. They can provide personalized guidance based on individual circumstances.

References: [1] Not applicable, as this information was not present in the search results. [2] Context 2 [3] Context 3 [5] Context 5 [7] Context 7 [9] Context 9

Recommended Medications

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Differential Diagnosis

The differential diagnosis for an obsolete X-linked recessive disease involves considering various conditions that may present with similar clinical and radiographic features.

  • Conditions such as Dent's disease, which is characterized by generalized proximal tubule dysfunction, can be considered in the differential diagnosis [5].
  • Other causes of renal Fanconi syndrome should also be ruled out.
  • In cases where the liver form of GSD-IX is suspected, it's essential to determine whether it's inherited in an X-linked or autosomal recessive manner and caused by a mutation in one of three different genes [6].

When considering the differential diagnosis for an obsolete X-linked recessive disease, it's crucial to take into account the specific clinical, biochemical, and radiographic findings presented.

  • Genetic testing may be recommended to confirm the diagnosis and rule out other genetic disorders, such as XLH or X-SCID [8].
  • In cases where patients present with a low B cell count, forms of autosomal recessive SCID should also be considered in the differential diagnosis [9].

The most common cause of macular dystrophy in young men is JXLR, which can result in significant visual impairment and vision loss. However, this condition is not directly related to X-linked recessive diseases.

  • The differential diagnosis for an obsolete X-linked recessive disease should be approached on a case-by-case basis, taking into account the specific clinical presentation and radiographic findings.
  • A thorough evaluation of the patient's medical history, physical examination, and laboratory results is essential to determine the correct diagnosis.

References:

[5] by O Devuyst · 2010 · Cited by 276 — [6] [8] by MR Laurent · 2021 · Cited by 51 — [9]

Additional Differential Diagnoses

Additional Information

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