Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome - This name is given to a collection of genetic neurological disorders, which cause progressive weakness and spasticity in the lower extremities resulting in various complications including severe gait abnormalities. Hereditary Spastic Paraplegia is a genetic recessive disease.
What Is Hereditary Spastic Paraplegia?
- Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome as stated is a collection of inherited neurological disorders in which there is gradual weakness of the leg muscles along with increased muscle tone and spasticity.
- Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome is also known by the name of Familial Spastic Paraplegia.
- The age of onset of symptoms of Hereditary Spastic Paraplegia and the severity of the weakness and spasticity is significantly variable.
- There may be observation of symptoms as early as infancy to as late as when an individual is close to 90 years of age but more often than not symptoms of Hereditary Spastic Paraplegia start to present themselves by the age of 30 years.
What Are The Causes Of Hereditary Spastic Paraplegia?
Genetic or Hereditary Disorder - A Cause For Hereditary Spastic Paraplegia
- Studies suggest that Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome is caused by mutations of different genes.
- In majority of cases of Hereditary Spastic Paraplegia, these mutations tend to be transmitted in an autosomal dominant fashion.
- In very rare cases, these mutations are transmitted in an autosomal recessive fashion.
- The exact defect in Hereditary Spastic Paraplegia is still unknown but some associated symptoms are suggested to be caused by progressive degenerative changes in the corticospinal tracts whose function is to transmit impulses from brain to the muscles, which are responsible for control of voluntary movements.
Subtypes Of Hereditary Spastic Paraplegia
There are two subtypes of Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome. The two subtypes are the uncomplicated or pure type and the complicated type.
- Uncomplicated or Pure Type- The uncomplicated or the pure type of Hereditary Spastic Paraplegia is associated with spastic paraplegia.
- Complicated Type- The complicated type of hereditary spastic paraplegia syndrome is associated with spastic paraplegia and additional neurological abnormalities. Additional neurological abnormalities are hearing impairment, mental retardation and ataxia.
What Are Some Of The Symptoms Of Hereditary Spastic Paraplegia?
Symptoms Of Uncomplicated Or Pure Type Of Hereditary Spastic Paraplegia-2
- Stiffness- Muscle and Joint Stiffness
- Weakness- Weakness in leg muscles observed.
- Balancing- Unintended tripping or falls are observed secondary to balance disorder. Abnormal balancing is caused by muscle weakness and cerebellar malfunction associated with the hereditary spastic paraplegia/ Strumpell-Lorraine Syndrome.
- Abnormal Gait- The disease is associated with an abnormal gait pattern, which progressively gets worse as the disease advances but total loss of ability to walk is an extremely rare phenomenon.
Symptoms Of Complicated Type Of Hereditary Spastic Paraplegia -
Additional symptoms suggests-
- Hearing impairment
- Mental retardation
How Is Hereditary Spastic Paraplegia Diagnosed?
To diagnose Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome, it is essential to have information about the family history of the individual to identify if any other family members or relatives have the same problem. Apart from this, other non-genetic causes of spasticity need to be ruled out. For this, spinal and cerebral MRI is imperative. Electrophysiological study is being researched to evaluate the characteristics of the disease.3 To confirm the diagnosis of Hereditary Spastic Paraplegia, genetic tests are conducted, which targets known genetic mutations
What Are Treatments For Hereditary Spastic Paraplegia?
As of now, there is no clear cut treatment for Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome but some of the treatments mentioned are found to be useful.
Physical Therapy is extremely important to improve range of motion of the involved extremity as well as strengthening of the muscles. A consultation with a Physical medicine & rehabilitation specialist may also be beneficial in this regard. Individual who suffer from Hereditary Spastic Paraplegia have high degree of spasticity and weakness in the muscles of the legs making it difficult for them to walk. For this antispasmodics can be beneficial to reduce spasticity and help the muscles strengthen up with physical therapy.
Exercises For Hereditary Spastic Paraplegia
Strengthening Exercises- These exercises help in strengthening the muscles and also prevent development of muscle atrophy due to disuse. Back pain as a result of Hereditary Spastic Paraplegia can be helped by back strengthening exercises.
Stretching Exercises- These exercises are beneficial for increasing range of motion and prevent development of cramps etc.
Aerobic Exercises- Apart from the above mentioned exercises, regular aerobic exercises are also very beneficial for people with Hereditary Spastic Paraplegia or Strumpell-Lorraine Syndrome. Some of the useful aerobic exercises are walking, bicycling, water aerobics and swimming.
1. Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
Halevy A1, Lerer I, Cohen R, Kornreich L, Shuper A, Gamliel M, Zimerman BE, Korabi I, Meiner V, Straussberg R, Lossos A.
J Neurol. 2014 Aug 23.
2. Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene.
Arkadir D, Noreau A, Goldman JS, Rouleau GA, Alcvalay RN.
Eur J Neurol. 2014;21(1):e2.
3. Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).
Karle KN1, Schüle R, Klebe S, Otto S, Frischholz C, Liepelt-Scarfone I, Schöls L.
Orphanet J Rare Dis. 2013 Oct 9;8:158. doi: 10.1186/1750-1172-8-158.