Spinal muscle atrophy - Revision history

Zipdoc: redirect to new page with correct name

2016-12-13T20:11:35Z

redirect to new page with correct name

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	~~==Background==~~		#REDIRECT [[Spinal muscular atrophy]]
	*Degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem

	~~===Type 1===~~
	*Autosomal Recessive
	*Also known as infantile spinal muscular atrophy or Werdnig-Hoffmann disease
	*The most common and severe type of SMA

	~~==Clinical Features==~~
	~~===Type 1===~~
	*Severe symmetric flaccid paralysis: unable to sit unsupported
	*Upper cranial nerves spared: alert expression and normal eye movements
	*Weakness of the bulbar muscles: weak cry, poor suck and swallow reflexes, pooling of secretions, aspiration, and fasciculations of the tongue
	*Respiratory failure: intercostal muscles typically more affected than the diaphragm, resulting in paradoxical breathing (inspiratory efforts cause the rib cage to move inward and the abdomen to move outward) and the development of a characteristic bell-shaped chest deformity

	~~===Type 2,3,4===~~
	*SMA 2 (intermediate form) and SMA 3 (mild form; Kugelberg-Welander disease) have a later onset and a less severe course. SMA 2 presents between 3 and 15 months of age, whereas SMA 3, the least severe, typically presents with signs of weakness at or after one year of age and progresses to a chronic course. Adult onset of SMA (type 4) usually presents in the second or third decade of life and is otherwise similar to SMA type 3.

	~~==Differential Diagnosis==~~
	~~===Hypotonic neonate===~~
	*Arthrogryposis multiplex congenita
	*X-linked infantile spinal muscular atrophy
	*Spinal muscular atrophy ~~with respiratory distress type 1~~
	*Congenital myasthenic syndromes
	*Congenital myopathies
	*Hypoxic-ischemic myelopathy
	*Lysosomal acid maltase deficiency
	*Prader-Willi syndrome
	*Traumatic myelopathy
	*Zellweger syndrome

	~~==Evaluation==~~

	~~==Management==~~
	~~===Type 1===~~
	*Supportive and directed at providing nutrition and respiratory assistance as needed, and treating or preventing complications of weakness. Physical therapy may be helpful. Spinal bracing can be used to delay the development of progressive scoliosis that is caused by muscle weakness, but may reduce expiratory tidal volume, and thus it should be used cautiously.
	*Chest physiotherapy with postural drainage, and manual cough assistance and/or use of a mechanical insufflation/exsufflation device.

	~~==Disposition==~~

	~~==See Also==~~

	~~==External Links==~~

	~~==References==~~
	~~<references/>~~

	~~[[Category:Pediatrics~~]]

Neil.m.young: Text replacement - "* " to "*"

2016-08-03T21:30:27Z

Text replacement - "* " to "*"

← Revisión anterior		Revisión del 21:30 3 ago 2016
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	===Type 1===		===Type 1===
	*Autosomal Recessive		*Autosomal Recessive
	* Also known as infantile spinal muscular atrophy or Werdnig-Hoffmann disease		*Also known as infantile spinal muscular atrophy or Werdnig-Hoffmann disease
	* The most common and severe type of SMA		*The most common and severe type of SMA

	==Clinical Features==		==Clinical Features==
	===Type 1===		===Type 1===
	* Severe symmetric flaccid paralysis: unable to sit unsupported		*Severe symmetric flaccid paralysis: unable to sit unsupported
	* Upper cranial nerves spared: alert expression and normal eye movements		*Upper cranial nerves spared: alert expression and normal eye movements
	* Weakness of the bulbar muscles: weak cry, poor suck and swallow reflexes, pooling of secretions, aspiration, and fasciculations of the tongue		*Weakness of the bulbar muscles: weak cry, poor suck and swallow reflexes, pooling of secretions, aspiration, and fasciculations of the tongue
	* Respiratory failure: intercostal muscles typically more affected than the diaphragm, resulting in paradoxical breathing (inspiratory efforts cause the rib cage to move inward and the abdomen to move outward) and the development of a characteristic bell-shaped chest deformity		*Respiratory failure: intercostal muscles typically more affected than the diaphragm, resulting in paradoxical breathing (inspiratory efforts cause the rib cage to move inward and the abdomen to move outward) and the development of a characteristic bell-shaped chest deformity

	===Type 2,3,4===		===Type 2,3,4===
Línea 34:		Línea 34:
	==Management==		==Management==
	===Type 1===		===Type 1===
	* Supportive and directed at providing nutrition and respiratory assistance as needed, and treating or preventing complications of weakness. Physical therapy may be helpful. Spinal bracing can be used to delay the development of progressive scoliosis that is caused by muscle weakness, but may reduce expiratory tidal volume, and thus it should be used cautiously.		*Supportive and directed at providing nutrition and respiratory assistance as needed, and treating or preventing complications of weakness. Physical therapy may be helpful. Spinal bracing can be used to delay the development of progressive scoliosis that is caused by muscle weakness, but may reduce expiratory tidal volume, and thus it should be used cautiously.
	* Chest physiotherapy with postural drainage, and manual cough assistance and/or use of a mechanical insufflation/exsufflation device.		*Chest physiotherapy with postural drainage, and manual cough assistance and/or use of a mechanical insufflation/exsufflation device.

	==Disposition==		==Disposition==

Rossdonaldson1: /* References */

2016-08-03T01:25:46Z

References

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	==References==		==References==
	<references/>		<references/>

			[[Category:Pediatrics]]

Rossdonaldson1: /* Background */

2016-08-03T01:25:25Z

Background

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	==Background==		==Background==
	*Degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem		*Degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem

			===Type 1===
			*Autosomal Recessive
			* Also known as infantile spinal muscular atrophy or Werdnig-Hoffmann disease
			* The most common and severe type of SMA

	==Clinical Features==		==Clinical Features==

Rossdonaldson1: /* Evaluation */

2016-08-03T01:25:09Z

Evaluation

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	==Evaluation==		==Evaluation==
	~~===Type 1===~~
	*Autosomal Recessive
	* Also known as infantile spinal muscular atrophy or Werdnig-Hoffmann disease
	* The most common and severe type of SMA
	* Presents in the neonatal period

	==Management==		==Management==

Rossdonaldson1: /* Clinical Features */

2016-08-03T01:24:36Z

Clinical Features

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	* Weakness of the bulbar muscles: weak cry, poor suck and swallow reflexes, pooling of secretions, aspiration, and fasciculations of the tongue		* Weakness of the bulbar muscles: weak cry, poor suck and swallow reflexes, pooling of secretions, aspiration, and fasciculations of the tongue
	* Respiratory failure: intercostal muscles typically more affected than the diaphragm, resulting in paradoxical breathing (inspiratory efforts cause the rib cage to move inward and the abdomen to move outward) and the development of a characteristic bell-shaped chest deformity		* Respiratory failure: intercostal muscles typically more affected than the diaphragm, resulting in paradoxical breathing (inspiratory efforts cause the rib cage to move inward and the abdomen to move outward) and the development of a characteristic bell-shaped chest deformity

			===Type 2,3,4===
			*SMA 2 (intermediate form) and SMA 3 (mild form; Kugelberg-Welander disease) have a later onset and a less severe course. SMA 2 presents between 3 and 15 months of age, whereas SMA 3, the least severe, typically presents with signs of weakness at or after one year of age and progresses to a chronic course. Adult onset of SMA (type 4) usually presents in the second or third decade of life and is otherwise similar to SMA type 3.

	==Differential Diagnosis==		==Differential Diagnosis==

Rossdonaldson1: /* Evaluation */

2016-08-03T01:24:16Z

Evaluation

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	* The most common and severe type of SMA		* The most common and severe type of SMA
	* Presents in the neonatal period		* Presents in the neonatal period

	~~===Type 2,3,4===~~
	*SMA 2 (intermediate form) and SMA 3 (mild form; Kugelberg-Welander disease) have a later onset and a less severe course. SMA 2 presents between 3 and 15 months of age, whereas SMA 3, the least severe, typically presents with signs of weakness at or after one year of age and progresses to a chronic course. Adult onset of SMA (type 4) usually presents in the second or third decade of life and is otherwise similar to SMA type 3.

	==Management==		==Management==

Rossdonaldson1: /* Type 1 */

2016-08-03T01:23:54Z

Type 1

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	==Clinical Features==		==Clinical Features==
	====Type 1====		===Type 1===
	* Severe symmetric flaccid paralysis: unable to sit unsupported		* Severe symmetric flaccid paralysis: unable to sit unsupported
	* Upper cranial nerves spared: alert expression and normal eye movements		* Upper cranial nerves spared: alert expression and normal eye movements

Rossdonaldson1: /* Type 1 */

2016-08-03T01:23:46Z

Type 1

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	==Clinical Features==		==Clinical Features==
	====Type 1====		====Type 1====
	* Severe symmetric flaccid paralysis ~~and are~~ unable to sit unsupported		* Severe symmetric flaccid paralysis: unable to sit unsupported
	* Upper cranial nerves ~~are~~ spared~~, so~~ alert expression and normal eye movements		* Upper cranial nerves spared: alert expression and normal eye movements
	* Weakness of the bulbar muscles ~~results in a~~ weak cry, poor suck and swallow reflexes, pooling of secretions, aspiration, and fasciculations of the tongue.		* Weakness of the bulbar muscles: weak cry, poor suck and swallow reflexes, pooling of secretions, aspiration, and fasciculations of the tongue
	* Respiratory ~~Failure because~~ intercostal muscles typically ~~are~~ more affected than the diaphragm, resulting in paradoxical breathing (inspiratory efforts cause the rib cage to move inward and the abdomen to move outward) and the development of a characteristic bell-shaped chest deformity.		* Respiratory failure: intercostal muscles typically more affected than the diaphragm, resulting in paradoxical breathing (inspiratory efforts cause the rib cage to move inward and the abdomen to move outward) and the development of a characteristic bell-shaped chest deformity

	==Differential Diagnosis==		==Differential Diagnosis==

Rossdonaldson1 at 01:22, 3 August 2016

2016-08-03T01:22:30Z

← Revisión anterior		Revisión del 01:22 3 ago 2016
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			==Background==
			*Degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem

	==~~Spinal Muscular Atrophy~~==		==Clinical Features==
	~~Degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem~~		====Type 1====
	~~===SMA Type 1===~~
	*Autosomal Recessive
	* Also known as infantile spinal muscular atrophy or Werdnig-Hoffmann disease
	* The most common and severe type of SMA
	* Presents in the neonatal period
	====~~Symptoms of~~ Type 1====
	* Severe symmetric flaccid paralysis and are unable to sit unsupported		* Severe symmetric flaccid paralysis and are unable to sit unsupported
	* Upper cranial nerves are spared, so alert expression and normal eye movements		* Upper cranial nerves are spared, so alert expression and normal eye movements
	* Weakness of the bulbar muscles results in a weak cry, poor suck and swallow reflexes, pooling of secretions, aspiration, and fasciculations of the tongue.		* Weakness of the bulbar muscles results in a weak cry, poor suck and swallow reflexes, pooling of secretions, aspiration, and fasciculations of the tongue.
	* Respiratory Failure because intercostal muscles typically are more affected than the diaphragm, resulting in paradoxical breathing (inspiratory efforts cause the rib cage to move inward and the abdomen to move outward) and the development of a characteristic bell-shaped chest deformity.		* Respiratory Failure because intercostal muscles typically are more affected than the diaphragm, resulting in paradoxical breathing (inspiratory efforts cause the rib cage to move inward and the abdomen to move outward) and the development of a characteristic bell-shaped chest deformity.
	~~====Treatment of Type 1====~~
	* Supportive and directed at providing nutrition and respiratory assistance as needed, and treating or preventing complications of weakness. Physical therapy may be helpful. Spinal bracing can be used to delay the development of progressive scoliosis that is caused by muscle weakness, but may reduce expiratory tidal volume, and thus it should be used cautiously.
	* Chest physiotherapy with postural drainage, and manual cough assistance and/or use of a mechanical insufflation/exsufflation device.

	===~~SMA Type 2,3,4~~===		==Differential Diagnosis==
	*~~SMA 2 (intermediate form) and SMA 3 (mild form; Kugelberg~~-~~Welander disease) have a later onset and a less severe course. SMA 2 presents between 3 and 15 months of age, whereas SMA 3, the least severe, typically presents~~ with ~~signs of weakness at or after one year of age and progresses to a chronic course. Adult onset of SMA (~~type ~~4) usually presents in the second or third decade of life and is otherwise similar to SMA type 3.~~		===Hypotonic neonate===
			*Arthrogryposis multiplex congenita
			*X-linked infantile spinal muscular atrophy
			*Spinal muscular atrophy with respiratory distress type 1
			*Congenital myasthenic syndromes
			*Congenital myopathies
			*Hypoxic-ischemic myelopathy
			*Lysosomal acid maltase deficiency
			*Prader-Willi syndrome
			*Traumatic myelopathy
			*Zellweger syndrome

	===~~Differential Diagnosis of a hypotonic baby~~===		==Evaluation==
	~~•Arthrogryposis multiplex congenita~~		===Type 1===
			*Autosomal Recessive
			* Also known as infantile spinal muscular atrophy or Werdnig-Hoffmann disease
			* The most common and severe type of SMA
			* Presents in the neonatal period

	•X-~~linked infantile spinal muscular atrophy~~		===Type 2,3,4===
			*SMA 2 (intermediate form) and SMA 3 (mild form; Kugelberg-Welander disease) have a later onset and a less severe course. SMA 2 presents between 3 and 15 months of age, whereas SMA 3, the least severe, typically presents with signs of weakness at or after one year of age and progresses to a chronic course. Adult onset of SMA (type 4) usually presents in the second or third decade of life and is otherwise similar to SMA type 3.

	~~•Spinal muscular atrophy with respiratory distress type~~ 1		==Management==
			===Type 1===
	~~•Congenital myasthenic syndromes~~		* Supportive and directed at providing nutrition and respiratory assistance as needed, and treating or preventing complications of weakness. Physical therapy may be helpful. Spinal bracing can be used to delay the development of progressive scoliosis that is caused by muscle weakness, but may reduce expiratory tidal volume, and thus it should be used cautiously.
			* Chest physiotherapy with postural drainage, and manual cough assistance and/or use of a mechanical insufflation/exsufflation device.
	~~•Congenital myopathies~~

	~~•Hypoxic-ischemic myelopathy~~

	~~•Lysosomal acid maltase deficiency~~		==Disposition==

	~~•Prader-Willi syndrome~~		==See Also==

	~~•Traumatic myelopathy~~		==External Links==

	~~•Zellweger syndrome~~		==References==
			<references/>