I am working on a family with autosomal recessive in which affected members have CP characters so how will i differentiate between whether it is Cerebral Palsy or Heredity Spastic Paraplegia?
In definition, we can consider that Cerebral palsy (CP) is a neurological syndrome and refers to a combination of signs and symptoms; it is not a disease. It's considered as an umbrella term that defines a group of non-progressive, but often
changing, syndromes of motor impairment secondary to lesions or anomalies of the brain arising in the early stages of its development [1,2]. The characteristic clinical feature that is common to all CP syndromes is the presence of pyramidal or extrapyramidal signs. CP is neither a specific disease nor a pathological or aetiological entity, and importantly the term CP does not—and should not—necessarily imply or identify a specific cause. In the other hand, we can defined Hereditary spastic paraplegia (HSP) as a designates a group of genetic disorders typically leading to spasticity in the lower limbs and consequently, occuring generally in gait disorders. However, although the symptoms are similar to those of cerebral palsy (CP), the correct diagnosis is important for treatment recommendations as one condition is progressive in nature whereas the other is not. HSP is classified as complex when complicated by other neurological signs such as ataxia, mental retardation, dementia, extrapyramidal signs, visual dysfunction, or epilepsy [3].
References:
(1) Mutch L, Albermal E, Hagberg B, et al. Cerebral palsy epidemiology: where are we now and where are we going? Dev Med Child Neurol 1992; 34 :547–55.
(2) Miller G, Clark GD. The cerebral palsies. Boston: Butterworth-Heinemann, 1998
(3) A.E. Harding Classification of the hereditary ataxias and paraplegias Lancet, 1 (8334) (1983), pp. 1151–1155.
Helpful but the issues are that we have collected sample of this family so they don't know whether it is from birth either or progressive second we have no diagnosis report so conclusion is difficult for me.
As CP have five genes total while HSP have a lot of genes and i got confuse when i saw a review article in which they have given these CP genes under Complicated HSP so now i cant decide whether to check either CP genes are for HSP as i have very limited time for research.
That might be quite difficult, especially for cross-sectional evaluation as the disease course is the main differentiating feature. You may try to search for clue towards CNS involvement pointing towards CP, e,g impaired cognition, intellectual disability, poor vision, swallowing dysfunction, etc. However this might be tricky too as HSP has a big spectrum & it is known that signs of CNS involvement can be elicited in few patients.
Maybe you have to try out the old clinical practice: do longitudinal observation: CP usually remains stationary, given adaptive changes after birth; HSP should be slowly progressive with an later onset. Still, it remains a big challenge for a clinician to tackle the differences.
By observation I can say it is not progressive but from onbirth. Second i have checked three genes which are responsible for spastic Cerebral palsy. Total are 4 genes.
Genetic studies will certainly help in differentiating the two. However, from a clinical point of view I wouldn't really rely on the progressive nature of HSP in order to differentiate these two disorders. First of all, it takes many years of observation. Second, families affected by HSP with a stationary disease course have been reported.
Another clinical clue for differentiating the two is gait analysis. Knee hyperextension, prolonged hip extension in stance, ankle plantar flexion and
large trunk tilt velocities in loading response and stance/swing
transition are all in favor of HSP. [Wolf, Sebastian I., et al. "Gait analysis may help to distinguish hereditary spastic paraplegia from cerebral palsy." Gait & posture 33.4 (2011): 556-561.]