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Pinal Uscular Trophy
Pinal Uscular Trophy
MUSCULAR
ATROPHY
BRIEF HISTORY
(1891-1894)
Werdnig (1891 and 1894), Hoffmann (1893), and Thomsen and Bruce
First described the classic form of spinal muscular atrophy (SMA) of hereditary type.
The cases described by these authors all involved infants.
Further clinical analyses, however, indicated the inadequacy of this narrow grouping.
Brandt
in his study of 112 Danish patients, found that in about one-third the weakness was
present at birth, and in 97 the onset was in the first year of life; in 9 patients, the
disease was not recognized until after the first year of life.
(1956)
Walton, and later Wohlfart and colleagues and Kugelberg and Welander
Identified milder forms of spinal muscular atrophy in which the onset was between 2
and 17 years and walking was still possible in adult life
Byers and Banker
In a study of 52 patients, they subdivided them into three groups on the basis of
age of onset; in one group the disease was recognized at birth or in the first
month or two of life; in a second, between 6
and12months;andinathird,afterthefirstyear.Intheirlastgroup, it was not unusual for
the patient to survive into adolescence and adult life. In a few of the late-onset
types, signs of corticospinal tract involvement are conjoined.
Bonduelle
Also included some patients with areflexia, pes cavus, Babinski signs,choreiform
movements, and mental retardation in this group. More recently, the designations
SMA I, II, and III have been introduced, based largely on the age of onset
DEFINITION
DEFINITION
SMA is a disorder that is manifested by interneuron abnormality and a loss of anterior horn cells. (Tecklin, Pediatric Physical
Therapy 5th Ed.)
A group of inherited disorders characterized by weakness and muscle wasting, secondary to degeneration of both ant. horn cell of
the spinal cord and brainstem motor nuclei without pyramidal tract involvement. (Cuccurullo)
Infantile SMA, a heredofamilial disease characterized by the gradual development of widespread weakness and atrophy of the
musculature of the trunk and limbs as a result of degenerative changes in the ant. horn cells of the spinal cord. (Brashear)
LMN lesion
Flaccid
Hypotonic
Hyporeflexic
Denervated Atrophy
(-) Babinski
UMN Lesion
Spastic
Hypertonic
Hyperreflexic
Disuse Atrophy
(+) Babinski
OTHER NAMES
OTHER NAMES
Floppy Baby Syndrome
ETIOLOGY
ETIOLOGY
Idiopathic
Genetics
Autosomal Recessive Disorder
Chromosome 5q13, where the survival motor neuron (SMN) gene is located and
the SMN protein is coded for.
2 Hologous Genes
SMN1 Gene
1 copy
Produces most of the proteins that the body uses
When affected, it produces no protein, thus the production of proteins will be
relied on SMN2
SMN2 Gene
Multiple copies
85-90% of proteins produced is not functional
Only isoform d protein is full size and fully functional
Total amount of SMN in SMA = Total copies of SMN2
Severity of SMA is dependent on the number of SMN2 present.
EPIDEMIOLOGY
EPIDEMIOLOGY
M>W
Most chronic variety of PMA is familial
Incidence: 1/15,000-20,000 live births
PATHOPHYSIOLOGY
DEGENERATION of ANTERIOR HORN CELLS in the spinal cord and the
NEUROCYTES in the motor nuclei of some cranial nerves.
CLASSIFICATION
OF THE
CLINICAL CONDITION
1. SMA I (infantile, Werdnig-Hoffmann)
2. SMA II (intermediate type)
3. SMA III (Wohlfart Kugelberg Welander)
4. Kennedy syndrome (bulbospinal atrophy)
5. Fazio-Londe disease (Progressive Bulbar Palsy of Childhood)
THREE SUBTYBES OF
AUTOSOMAL RECESSIVE SMA