Hereditary familial spastic paraparesis is a group of rare hereditary disorders that cause gradual weakness with muscle spasms spastic weakness in the legs. Slight description of spastic paraparesis and how i get around with it. Many people who have hereditary spastic paraparesis eventually may require a cane, a walker or a wheelchair. Hamtsp is a chronic inflammatory disease of the central nervous system cns characterized by unremitting myelopathic symptoms such as spastic paraparesis. Right spastic ectropion eye condition icd10cm diagnosis code h02. Hereditary spastic paraplegias hsp constitute a category of neurodegenerative diseases, characterized by great genetic and clinical variety.
Spastic paraplegia type 7 genetics home reference nih. Hereditary spastic paraplegia hsp is a group of rare, inherited neurological disorders. Hereditary spastic paraparesis affects both sexes and may begin at any age. Clinical presentation of axial myopathy in two siblings. Typically, hereditary spastic paraparesis progresses very slowly, and the changes it causes in a persons body are gradual and subtle. These disorders are characterized by progressive muscle stiffness spasticity and the development of paralysis of the lower limbs paraplegia. Paraparesis is a medical condition that is characterized by the weakness or paralysis partial of the lower extremities. Hereditary spastic paraplegia hsp is a group of inherited diseases whose main feature is a progressive gait disorder.
Spastic diplegia is a condition in which the lower extremities are more affected than uppers. As the name suggests, it is most common in tropical regions, including the caribbean. Its caused by the human tcell lymphotrophic virus type. Hereditary spastic paraparesis brain, spinal cord, and. Blood transfusion products are screened for htlv1 antibodies, as a preventive measure. The diagnosis is mainly based on history, clinical findings, and the detection of.
Lecturer, alvas college of physiotherapy, moodabidri, india1. 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. Tropical spastic paraparesis an overview sciencedirect. 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. Cervical myelopathy c5t1 anterior horn cell disease motor neuron disease syringomyelia. Current neurology and neuroscience reports, 2006, 61. 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.
The disease presents with progressive stiffness and contraction in the lower limbs. Spastic paraplegia type 2 genetics home reference nih. Hereditary spastic paraplegia clinical presentation. Here, we described the clinical presentations, muscle biopsy studies and laboratory results of two siblings with htlv1associated myelopathy tropical spastic paraparesis. Diagnosis is clinical and sometimes by genetic testing. Although poorly recognised by neurologists, spastic paraparesis can be one of the results of some metabolism disorders in children and adults. Htlv1 associated myelopathytropical spastic paraparesis.
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. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of. 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. A case study r narismulu greys hospital february 2008. Pdf tropical spastic paraparesis in northeastern brazil. 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.
The plp1 gene provides instructions for producing proteolipid protein 1 and a modified version isoform of proteolipid protein 1, called dm20. Rare families with homozygous mutations, consistent with autosomal recessive inheritance, have also been reported. 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. Typical symptoms include hyperflexion of the legs and a gradually developing spasticity. Three additional members with the same mutation also had spastic paraparesis. Differential diagnosis for spastic paraparesis oxford.
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. Hereditary spastic paraparesis hsp is a diverse group of neurodegenerative disorders estimated to affect 9. Common and important causes of spastic paraparesis for doctors and medical students this page is currently being written and will be available soon. Tropical spastic paraparesis zchronic viral myelitis can be associated. The hsp incidence rate in the united states is 20,000 people. In a family with fad with onset in the early forties, oriordan et al.
It is characterized by a chronic course in which mildtosevere leg weakness develops with increased muscle tone and extensor plantar responses. Ham, or tropical spastic paraparesis, is a chronic progressive demyelinating disease that affects the spinal cord and white matter of the cns. Treatment of htlviassociated myelopathytropical spastic paraparesis. 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.
Chapter differential diagnosis of acquired causes of. People with hereditary spastic paraparesis have exaggerated reflexes, cramps, and spasms, making walking difficult. Hereditary spastic paraplegias are divided into two types. Hereditary spastic paraparesis neurologic disorders. We describe serial mr imaging findings in a patient with htlviassociated myelopathy. Tropical spastic paraparesis has been recognized clinically for many years in tropical areas and japan. This group of diseases is also known as familial spastic paraplegia and strumpelllorrain syndrome. Case report physical therapy interventions for the. Over time, however, it can result in difficulty walking. Gait patterns in patients with hereditary spastic paraparesis. Tropical spastic paraparesis tsp tsp is a disease of the nervous system that causes weakness, stiffness, and muscle spasms of the legs. Mutations in the plp1 gene cause spastic paraplegia 2. 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.
Hereditary spastic paraplegia hsp is a large group of inherited neurologic disorders, in which the prominent feature is a progressive spastic paraparesis. Metabolic cause of some spastic paraplegia hsp research. This means that tropical spastic paraparesis, or a subtype of tropical spastic paraparesis, affects less than 200,000 people in the us population. Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Hsp is also known as hereditary spastic paraparesis, familial spastic paraplegia, french settlement disease, strumpell disease, or strumpelllorrain disease. 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. This disorder has many forms and can result from many different types of genetic abnormalities. Mutation in tecpr2 reveals a role for autophagy in. Tropical spastic paraparesis is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. It results in a spastic paraparesis that may mildly involve the upper limbs. Hereditary spastic paraplegia hsp is not a single disease entity. This breaks from merely pronouncing and discussing and.
Treatment is symptomatic, including drugs to relieve spasticity. 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. Paraparesis symptoms, causes, treatment, types, diagnosis. 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. Disorder causing leg weakness may be hereditary despite. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in. 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. All forms cause degeneration of the nerve pathways that carry signals from the brain down the spinal cord to muscles. Bladder dysfunction in hereditary spastic paraplegifink jk. 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. Intelligence may be normal and ambulation with braces or ankle supports may be good. Therapeutic trials in 200 patients with htlviassociated myelopathy tropical spastic paraparesis. Idiopathic progressive spastic paraparesis jama jama.
Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. 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. Gait instability, sensory deficits, weakness, spasticity, and back pain are main findings. Hereditary spastic paraplegia genetic and rare diseases. Doctors help you with trusted information about partial paralysis of lower limbs in paraplegia. Hereditary spastic paraplegia hsp is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Differentiating tropical spastic paraparesis from other diseases. Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias.
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