Adrenoleukodystrophy physical examination: Difference between revisions

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Latest revision as of 18:05, 23 June 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

Adrenoleukodystrophy has numerous phenotypes with various clinical findings. The most aggressive one is Childhood cerebral type which results in behavioural changes, school failure, dementia, speech impairment, bulbar palsy, paralysis and audiovisual changes on examination. Most males in childhood have adrenal insufficiency that can show orthostatic hypotension, hyperpigmentation and confusion. Females who are heterozygous and symptomatic can have sphincter disturbances, incoordination and paraparesis.

Physical Examination

Adrenoleukodystrophy has numerous phenotypes with various clinical findings. Some of the general examination findings which can occur in all phenotypes are listed as following:

HEENT

Neck

Neck examination of patients with Adrenoleukodystrophy is usually normal.

Lungs

Pulmonary examination of patients with Adrenoleukodystrophy is usually normal.

Heart

Cardiovascular examination of patients with Adrenoleukodystrophy is usually normal.

Abdomen

Back

Back examination of patients with Adrenoleukodystrophy is usually normal.

Neuromuscular

Changes in muscle tone, especially muscle spasms and spasticity
Aphasia
Deterioration of handwriting
Difficulty at school
Difficulty understanding spoken material
Hyperactivity
Worsening nervous system deterioration
- Coma
- Decreased fine motor control
- Paralysis
Seizures
Possible worsening muscle weakness or leg stiffness
Problems with thinking speed and visual memory

Skin

Increased skin color (pigmentation)

Genitourinary

Difficulty controlling urination

Physical exam findings related to specific phenotype^[1]
Phenotypes	Examination Findings
Childhood Cerebral	Behavioural changes Dementia Speech impairment Bulbar palsy Paralysis Audiovisual disturbances
Adrenomyeloneuropathy (AMN)	Paraparesis Sphincter disturbances Sensory changes Incoordination
Addison disease only	Orthostatic hypotension Fever Weakness Hyperpigmentation Seizures Confusion
Mild myelopathy	Increased deep tendon reflexes Sensory disturbances in lower extremities Incoordination Sphincter disturbances

References

↑ Moser HW, Raymond GV, Dubey P (2005). "Adrenoleukodystrophy: new approaches to a neurodegenerative disease". JAMA. 294 (24): 3131–4. doi:10.1001/jama.294.24.3131. PMID 16380594.

Template:WH Template:WS

[pmid16380594-1] Moser HW, Raymond GV, Dubey P (2005). "Adrenoleukodystrophy: new approaches to a neurodegenerative disease". JAMA. 294 (24): 3131–4. doi:10.1001/jama.294.24.3131. PMID 16380594.

[1]

@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Adrenoleukodystrophy}}
-{{CMG}}
+{{CMG}}; {{AE}}
+{{PleaseHelp}}
 ==Overview==
+Adrenoleukodystrophy has numerous phenotypes with various clinical findings. The most aggressive one is Childhood cerebral type which results in behavioural changes, school failure, dementia, speech impairment, bulbar palsy, paralysis and audiovisual changes on examination. Most males in childhood have adrenal insufficiency that can show orthostatic hypotension, hyperpigmentation and confusion. Females who are heterozygous and symptomatic can have sphincter disturbances, incoordination and paraparesis.
 ==Physical Examination==
+Adrenoleukodystrophy has numerous phenotypes with various clinical findings. Some of the general examination findings which can occur in all phenotypes are listed as following:
+=== HEENT ===
+*[[Strabismus]]
+*[[Hearing loss]]
+*[[Visual impairment]] or [[blindness]]
+===Neck===
+Neck examination of patients with Adrenoleukodystrophy is usually normal.
+===Lungs===
+Pulmonary examination of patients with Adrenoleukodystrophy is usually normal.
+===Heart===
+Cardiovascular examination of patients with Adrenoleukodystrophy is usually normal.
+===Abdomen===
+*[[Swallowing difficulties]]
+*[[Decreased appetite]]
+*[[Vomiting]]
+*[[Loss of weight]]
+===Back===
+Back examination of patients with Adrenoleukodystrophy is usually normal.
+=== Neuromuscular ===
 *Changes in [[muscle tone]], especially [[muscle spasms]] and [[spasticity]]
-*[[strabismus]]
+*[[Aphasia]]
-*[[aphasia]]
 *Deterioration of handwriting
 *Difficulty at school
 *Difficulty understanding spoken material
-*[[Hearing loss]]
 *[[Hyperactivity]]
 *Worsening [[nervous system]] deterioration
@@ Line 17: / Line 53: @@
 **[[Paralysis]]
 *[[Seizures]]
-*[[Swallowing difficulties]]
-*[[Visual impairment]] or [[blindness]]
-*Difficulty controlling [[urination]]
 *Possible worsening [[muscle weakness]] or [[leg]] [[stiffness]]
 *Problems with thinking speed and [[visual memory]]
-*[[Decreased appetite]]
+===Skin===
 *Increased [[skin color]] ([[pigmentation]])
-*[[Loss of weight]], [[muscle mass]] ([[wasting]])
-*[[Muscle weakness]]
+===Genitourinary===
-*[[Vomiting]]
+*Difficulty controlling [[urination]]
+{| class="wikitable"
+|+
+Physical exam findings related to specific phenotype<ref name="pmid16380594">{{cite journal| author=Moser HW, Raymond GV, Dubey P| title=Adrenoleukodystrophy: new approaches to a neurodegenerative disease. | journal=JAMA | year= 2005 | volume= 294 | issue= 24 | pages= 3131-4 | pmid=16380594 | doi=10.1001/jama.294.24.3131 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16380594  }}</ref>
+!Phenotypes
+!Examination Findings
+|-
+|Childhood Cerebral
+|Behavioural changes
+Dementia
+Speech impairment
+Bulbar palsy
+Paralysis
+Audiovisual disturbances
+|-
+|Adrenomyeloneuropathy (AMN)
+|Paraparesis
+Sphincter disturbances
+Sensory changes
+Incoordination
+|-
+|Addison disease only
+|Orthostatic hypotension
+Fever
+Weakness
+Hyperpigmentation
+Seizures
+Confusion
+|-
+|Mild myelopathy
+|Increased deep tendon reflexes
+Sensory disturbances in lower extremities
+Incoordination
+Sphincter disturbances
+|}
 ==References==
 {{reflist|2}}
+[[Category:Endocrinology]]
 {{WH}}
 {{WS}}