An apparently sporadic case of adultonset spastic paraplegia is a frequent clinical problem and a significant proportion of. Okane et al spastic paraplegia proteins help model the axonal. For several decades the term tropical spastic paraparesis tsp has been used to describe a chronic and progressive disease of the nervous system that affects adults living in equatorial areas of the world and causes progressive weakness, stiff muscles, muscle spasms, sensory disturbance, and sphincter dysfunction. Chapter differential diagnosis of acquired causes of. Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. These disorders are characterized by muscle stiffness spasticity and weakness in the lower limbs paraplegia. The term paraplegia means severe weakness in both legs including paralysis. Cervical myelopathy c5t1 anterior horn cell disease motor neuron disease syringomyelia. Hereditary spastic paraplegia hsp is a group of geneticallydetermined disorders characterized by progressive spasticity and weakness of lower limbs. All forms cause degeneration of the nerve pathways that carry signals from the brain down the spinal cord to muscles. Case report physical therapy interventions for the. Spastic paraplegia type 3a genetics home reference nih.
Symptoms of hereditary spastic paraparesis may begin at any agefrom age 1 to old agedepending on the form. These disorders are characterized by progressive muscle stiffness spasticity and the development of paralysis of the lower limbs paraplegia. To be updated when it is complete please like us on facebook, follow us on twitter or subscribe on youtube using the follow us buttons. Tropical spastic paraparesis zchronic viral myelitis can be associated. Request permission export citation add to favorites track citation. The disease presents with progressive stiffness and contraction in the lower limbs. Tropical spastic paraparesis information page national.
More detailed information about the symptoms, causes, and treatments of spastic paraparesis is available below symptoms of spastic paraparesis. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic. Jun 05, 2017 slight description of spastic paraparesis and how i get around with it. Mar 27, 2019 for several decades the term tropical spastic paraparesis tsp has been used to describe a chronic and progressive disease of the nervous system that affects adults living in equatorial areas of the world and causes progressive weakness, stiff muscles, muscle spasms, sensory disturbance, and sphincter dysfunction. Hereditary spastic paraparesis brain, spinal cord, and. Hereditary spastic paraplegia hsp is a group of rare, inherited neurological disorders. Lathyrism tocp arsenic contrast media used in radiology intra thecal penicillin spinal anesthesia smonsub acute myelo opotic neuropathy long term enteroquinol, large dose. International meeting on spastic paraparesis and ataxias spatax. Pdf the coexistence of multiple sclerosis and hereditary. We strongly recommend that you talk with a trusted healthcare. Blood transfusion products are screened for htlv1 antibodies, as a preventive measure. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
Spastic paraparesis genetic and rare diseases information. Paraplegia is impairment in motor and or sensory functions of the lower extremities often including lower part of the trunk. Over time, however, it can result in difficulty walking. The coexistence of multiple sclerosis and hereditary spastic. Ruzzo, yuki hitomi, amir gelman,kimberly pelak,yair anikster, haike reznikwolf,ifat barjoseph, tsviya olender,anna alkelai, meira. It results in a spastic paraparesis that may mildly involve the upper limbs.
Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Important gene tests for hereditary spastic paraplegia. Abstract background pathogenic variants in the spastic paraplegia type 7 gene cause a complicated hereditary spastic paraplegia phenotype. I was knocked sideways by this, so i did my research, joined the support group, went to their agm and made a special friend, who i still see. Mutations in the plp1 gene cause spastic paraplegia 2. Hereditary spastic paraplegias are divided into two types. Current neurology and neuroscience reports, 2006, 61. Hereditary spastic paraplegia hsp, also called familial spastic paraparesis fsp, refers to a group of inherited disorders that are characterized by progressive weakness and spasticity stiffness of the legs. Spastic paraparesis symptoms, diagnosis, treatments and. Both the individual with hsp, showed improvement in all the four outcome measures. As the name suggests, it is most common in tropical regions, including the caribbean. The coexistence of multiple sclerosis and hereditary spastic paraparesis in a patient article pdf available in neurology international 52.
Genetic types of hereditary spastic paraplegia hsp. Typically, hereditary spastic paraparesis progresses very slowly, and the changes it causes in a persons body are gradual and subtle. Paraparesis is a medical condition that is characterized by the weakness or paralysis partial of the lower extremities. Familial spastic paraplegia motor neuron disease toxic myelopathy. Jun 27, 2019 tropical spastic paraparesis tsp tsp is a disease of the nervous system that causes weakness, stiffness, and muscle spasms of the legs. Current insights into familial spastic paraparesis functional. Reflexes become exaggerated, and leg cramps, twitches, and spasms occur, making leg movements stiff and jerky called a spastic gait.
There are two forms of paraparesis which further explain the primary causes of the disease. Slight description of spastic paraparesis and how i get around with it. Hereditary spastic paraparesis hsp or the strumpelllorrain syndrome is the name given to a heterogeneous group of inherited disorders in which the main clinical feature is progressive lower. Please include your name and address, but these will be omitted on request. Lecturer, alvas college of physiotherapy, moodabidri, india1.
Although the disorder is typically referred to as hereditary spastic paraplegia the degree of weakness is variable and ranges from no weakness full strength to marked weakness. Idiopathic progressive spastic paraparesis jama jama. Pdf multiple sclerosis ms is a chronic disease characterized by multiple areas of central. Tropical spastic paraparesis tsp tsp is a disease of the nervous system that causes weakness, stiffness, and muscle spasms of the legs.
This disorder has many forms and can result from many different types of genetic abnormalities. Hereditary spastic paraplegia spg is a group of neurodegenerative disorders characterized by progressive spasticity and weakness of the lower limbs, resulting from dying back axonopathy of the corticospinal tract. Tropical spastic paraparesis an overview sciencedirect. Tropical spastic paraparesis tsp, is a medical condition that causes weakness, muscle spasms, and sensory disturbance by human tlymphotropic virus resulting in paraparesis, weakness of the legs. We added the above functional rehabilitation exercises from fifth week to 8week, the end of intervention. Early in the disease course, there may be mild gait difficulties and stiffness. Webb s, coleman d, byrne p, parfrey n, burke t, hutchinson j, hutchinson m. Case report physical therapy interventions for the patients.
Hereditary spastic paraplegia is a novel phenotype for gja12gjc2. Spastic paraplegia type 3a is one of a group of genetic disorders known as hereditary spastic paraplegias. Pdf service delivery for people with hereditary spastic. Proteolipid protein 1 and dm20 are primarily located in the brain and spinal cord central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers.
Hereditary spastic paraparesis hsp is a heterogeneous group of inherited disorders, with prevalence ranged from 4. This type of paraparesis is known as familial spastic paraparesis, as develops from an inherited gene. We found that the majority of youngadult patients showed a predominant upper motor neuron pumn als, characterized by marked spastic paraparesis, with lower motor neuron ncbi. Hereditary spastic paraparesis hsp comprises a clini. Our database lists the following as having spastic paraparesis as a symptom of that condition. Clinical features and management of hereditary spastic. Paraparesis symptoms, causes, treatment, types, diagnosis. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease. Familial spastic paraparesis, optic atrophy, and dementia. Hereditary spastic paraplegia hsp is an inherited nervous system disorder characterized by development of leg weakness, spasms and. The known recessive spg loci, spg5a, spg7, as well as xlinked types of spastic paraplegia, spg1 and spg2, were excluded in 7 families. Issn 23211822 case report physical therapy interventions for the patients with hereditary spastic paraparesisan exploratory case reports asir john samuel1, vencita priyanka aranha2, trapthi kamath3, monika pokhrel4.
The hsp incidence rate in the united states is 20,000 people. Hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Hereditary spastic paraplegia nord national organization. If the patient can walk, look for a spastic gait with bilateral circumduction described as scissoring, and whilst they are standing inspect the spine for scars. Hereditary spastic paraparesis affects both sexes and may begin at any age. Common and important causes of spastic paraparesis for doctors and medical students this page is currently being written and will be available soon. We use your linkedin profile and activity data to personalize ads and to show you more relevant ads. A case study r narismulu greys hospital february 2008. That is me who has undertaken a treatment for my hereditary spastic paraparesis. Reflux, and spastic paraparesis with amyotrophy am.
Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques. From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and wellbeing around the world. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Merge mutant cdnas are expressed with a pattern similar to the wild type. Its also known as familial spastic paraparesis or strumpelllorrain syndrome. The coexistence of multiple sclerosis and hereditary. Bladder dysfunction in hereditary spastic paraplegifink jk. Hereditary spastic paraplegias hsp are a rare group of inherited neurodegenerative diseases which mainly affect the longest axons of the corticospinal tract and the dorsal column which supply the lower limbs. Progressive spastic paraparesis linkedin slideshare.
Spastic paraplegia type 2 genetics home reference nih. Hsp is caused by defects in genes which code for proteins essential for fast axonal neurotransmission. Ham, or tropical spastic paraparesis, is a chronic progressive demyelinating disease that affects the spinal cord and white matter of the cns. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease. Pdf the coexistence of multiple sclerosis and hereditary spastic. A novel syndrome combining thyroid and neurological abnormalities is associated with. Investigation of an epidemic of more than cases of spastic paraparesis in a droughtstriken cassava. Paraparesis indicates weakness in both legs of lesser severity than paraplegia. Disorder causing leg weakness may be hereditary despite. The plp1 gene provides instructions for producing proteolipid protein 1 and a modified version isoform of proteolipid protein 1, called dm20. Hsp is a group of nervous system disorders that cause weakness and stiffness or spasticity of the legs.
Many people who have hereditary spastic paraparesis eventually may require a cane, a walker or a wheelchair. Physical therapy interventions for the patient with hereditary spastic paraparesis an exploratory case reports. Stem cells were derived from my belly lipids and then injected into my legs to find their way. Its caused by the human tcell lymphotrophic virus type. Spastic paraplegia type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. Hereditary spastic paraparesis msd manual consumer version. Look around the bed for walking aids or wheelchairs, and check for the presence of a catheter. Mutations in spg11 are frequent in autosomal recessive spastic paraplegia with thin corpus collosum, cognitive decline and lower motor neuron degeneration. Hereditary spastic paraplegia knowledge for medical. Hereditary spastic paraplegia with mental impairment and thin corpus collosum in tunisia, arch neurol. Hereditary spastic paraparesis hsp is characterized clinically by progressive spasticity. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness spasticity and contraction in the lower limbs.
Hereditary spastic paraplegia hsp, also known as hereditary spastic paraparesis, familial spastic paraplegias, french settlement disease, or strumpelllorrain disease, is a group of inherited diseases whose main feature is progressive stiffness and contraction spasticity in the lower limbs, as a result of damage to or dysfunction of the nerves. Apr 24, 2016 hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Bruhn, in mandell, douglas, and bennetts principles and practice of infectious diseases eighth edition, 2015. Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Hereditary spastic paraparesis merck manuals consumer version. Hereditary spastic paraplegia information page national. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. Adultonset, chronic progressive spastic paraparesis may be due to a large number of causes and poses a diagnostic challenge.
Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different. Differential diagnosis for spastic paraparesis oxford. Mar 27, 2019 hereditary spastic paraplegia hsp, also called familial spastic paraparesis fsp, refers to a group of inherited disorders that are characterized by progressive weakness and spasticity stiffness of the legs. A rare disorder where parts of the body develop spasticity and weakness. Hereditary spastic paraplegias are often divided into two types. Combining nextgeneration sequencing techniques and deep. This means that spastic paraparesis, or a subtype of spastic paraparesis, affects less than 200,000 people in the us population. Hereditary spastic paraplegia hsp or strumpelllorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4. One patient with chronic neurogenic quadriceps amyotrophy 22 and another one with spastic paraparesis with dysarthria may later develop mnd als one patient with chronic neurogenic quadriceps. Hereditary spastic paraplegia genetic and rare diseases. Conditions listing spastic paraparesis as a symptom may also be potential underlying causes of spastic paraparesis.
417 568 203 1062 1078 680 454 483 694 899 630 216 1192 36 1499 343 240 881 1247 1360 86 1119 1499 760 659 1173 496 359 72 827 1492 1012 649 1244 802 780 1039 1230 1222 632 973 283 1215 273 1403