Tropical spastic paraparesis an overview sciencedirect. Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteris. The plp1 gene provides instructions for producing proteolipid protein 1 and a modified version isoform of proteolipid protein 1, called dm20. Lecturer, alvas college of physiotherapy, moodabidri, india1. Bladder dysfunction in hereditary spastic paraplegifink jk. Hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Spastic diplegia is a condition in which the lower extremities are more affected than uppers.
Common and important causes of spastic paraparesis for doctors and medical students this page is currently being written and will be available soon. This group of diseases is also known as familial spastic paraplegia and strumpelllorrain syndrome. Tropical spastic paraparesis is a still incompletely understood neurologic disorder caused by human tcell lymphotropic virus 1 htlv1, with a mean onset of symptoms in the fourth and fifth decade of life. The clinical features of myositis related with human tcell leukemia virus type 1 htlv1 remains unclear despite epidemiological studies suggesting inflammatory myopathy associated with the virus.
Tropical spastic paraparesis tsp tsp is a disease of the nervous system that causes weakness, stiffness, and muscle spasms of the legs. Spastic paraplegia type 2 genetics home reference nih. It is characterized by a chronic course in which mildtosevere leg weakness develops with increased muscle tone and extensor plantar responses. Hereditary spastic paraplegias are divided into two types. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease.
Paraparesis symptoms, causes, treatment, types, diagnosis. Htlv1 associated myelopathytropical spastic paraparesis hamtsp is a progressive disease of the nervous system that affects less than 2% of people with htlv1 infection signs and symptoms vary but may include slowly progressive weakness and spasticity of one or both legs, exaggerated reflexes, muscle contractions in the ankle, and lower back pain. This means that tropical spastic paraparesis, or a subtype of tropical spastic paraparesis, affects less than 200,000 people in the us population. Hereditary familial spastic paraparesis is a group of rare hereditary disorders that cause gradual weakness with muscle spasms spastic weakness in the legs.
Intelligence may be normal and ambulation with braces or ankle supports may be good. Rare families with homozygous mutations, consistent with autosomal recessive inheritance, have also been reported. Chapter differential diagnosis of acquired causes of. Hereditary spastic paraplegia clinical presentation. We describe serial mr imaging findings in a patient with htlviassociated myelopathy. Differentiating tropical spastic paraparesis from other diseases. Spastic paraplegia type 7 genetics home reference nih. 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. All forms cause degeneration of the nerve pathways that carry signals from the brain down the spinal cord to muscles. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. In a family with fad with onset in the early forties, oriordan et al. The disease presents with progressive stiffness and contraction in the lower limbs. Each manifestation is associated with distinct characteristics, as atll presents as a leukemialike disease, while hamtsp presents as severe inflammation in the central nervous system, leading to paraparesis.
Htlv1 associated myelopathytropical spastic paraparesis. Hereditary spastic paraparesis hsp is a diverse group of neurodegenerative disorders estimated to affect 9. Hereditary spastic paraplegia hsp is a large group of inherited neurologic disorders, in which the prominent feature is a progressive spastic paraparesis. Hereditary spastic paraparesis affects both sexes and may begin at any age. Disorder causing leg weakness may be hereditary despite. Hereditary spastic paraplegia genetic and rare diseases. Many people who have hereditary spastic paraparesis eventually may require a cane, a walker or a wheelchair.
Hereditary spastic paraplegias hsp constitute a category of neurodegenerative diseases, characterized by great genetic and clinical variety. People with hereditary spastic paraparesis have exaggerated reflexes, cramps, and spasms, making walking difficult. Treatment is symptomatic, including drugs to relieve spasticity. Its caused by the human tcell lymphotrophic virus type. Three additional members with the same mutation also had spastic paraparesis. The patient had acute progression of neurologic symptoms and exhibited swelling of the entire length of the spinal cord with increased t2 signal and contrast enhancement on mr imaging. Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteris tics have. Hereditary spastic paraparesis is a group of rare hereditary disorders characterized by progressive, spinal, nonsegmental spastic leg paresis, sometimes with intellectual disability, seizures, and other extraspinal deficits. Hereditary spastic paraparesis hsp hsp is a group of nervous system disorders that cause weakness and stiffness or spasticity of the legs that get worse over time. 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.
These disorders are characterized by progressive muscle stiffness spasticity and the development of paralysis of the lower limbs paraplegia. This disorder has many forms and can result from many different types of genetic abnormalities. Gait instability, sensory deficits, weakness, spasticity, and back pain are main findings. Treatment of htlviassociated myelopathytropical spastic paraparesis. Pdf tropical spastic paraparesis in northeastern brazil.
Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder. Metabolic cause of some spastic paraplegia hsp research. It is characterized by axonal degeneration of the corticospinal or pyramidal motor and sensory tracts that control the lower extremities and results in progressive spasticity and hyperreflexia of the lower. Paraparesis is a medical condition that is characterized by the weakness or paralysis partial of the lower extremities. Atll and htlv1 associated myelopathytropical spastic paraparesis hamtsp. Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. Slight description of spastic paraparesis and how i get around with it. A case study r narismulu greys hospital february 2008. Hereditary spastic paraparesis neurologic disorders. Hereditary spastic paraparesis msd manual consumer version. 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.
Current neurology and neuroscience reports, 2006, 61. Mutations in the plp1 gene cause spastic paraplegia 2. It results in a spastic paraparesis that may mildly involve the upper limbs. Hereditary spastic paraplegia hsp is a group of rare, inherited neurological disorders. Diagnosis is clinical and sometimes by genetic testing.
Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of. Hamtsp is a chronic inflammatory disease of the central nervous system cns characterized by unremitting myelopathic symptoms such as spastic paraparesis. Gait patterns in patients with hereditary spastic paraparesis. As the name suggests, it is most common in tropical regions, including the caribbean. Blood transfusion products are screened for htlv1 antibodies, as a preventive measure. Human t cell lymphotropic virus type i htlvi is the etiologic agent in a progressive neurological disease termed htlviassociated myelopathytropical spastic paraparesis hamtsp 1, 2. The diagnosis is mainly based on history, clinical findings, and the detection of. Typical symptoms include hyperflexion of the legs and a gradually developing spasticity. 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. Over time, however, it can result in difficulty walking. Clinical presentation of axial myopathy in two siblings. Hereditary spastic paraplegia hsp is not a single disease entity. Ham, or tropical spastic paraparesis, is a chronic progressive demyelinating disease that affects the spinal cord and white matter of the cns.
Tropical spastic paraparesis has been recognized clinically for many years in tropical areas and japan. Hereditary spastic paraparesis brain, spinal cord, and. Tropical spastic paraparesis is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Although poorly recognised by neurologists, spastic paraparesis can be one of the results of some metabolism disorders in children and adults. Doctors help you with trusted information about partial paralysis of lower limbs in paraplegia. 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. Differential diagnosis for spastic paraparesis oxford. Tropical spastic paraparesis zchronic viral myelitis can be associated. Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Cervical myelopathy c5t1 anterior horn cell disease motor neuron disease syringomyelia.
Mutation in tecpr2 reveals a role for autophagy in. This breaks from merely pronouncing and discussing and. The hsp incidence rate in the united states is 20,000 people. Case report physical therapy interventions for the. Typically, hereditary spastic paraparesis progresses very slowly, and the changes it causes in a persons body are gradual and subtle. Idiopathic progressive spastic paraparesis jama jama. The htlv1 associated myelopathytropical spastic paraparesis hamtsp is caused by the human t retrovirus and one of its major manifestations is the progressive spastic paraparesis. Therapeutic trials in 200 patients with htlviassociated myelopathy tropical spastic paraparesis. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in. Right spastic ectropion eye condition icd10cm diagnosis code h02.
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