October 29, 1979 EXTENSIONS OF REMARKS 30007 EXTENSIONS OF REMARKS JOSEPH DISEASE all offspring having the disease if only one tinho and Andrade, 1978). Death usually re­ parent is affected, to a 75 % chance of all off­ sults from pneumonia about fifteen (15) spring being affected if both parents have years after the onset of symptoms (Rosen­ HON. TONY COELHO the disease. There is no correlation between berg, et. al., 1978; Rosenberg, et. al., 1979). OF CALIFORNIA sex of the affected parent and the sex of the Occasionally the onset of the disease does not affected child, nor any increased incidence in begin until above the age of forty ( 40). In IN THE HOUSE OF REPRESENTATIVES either sex. these cases the debilitating course of the Monday, October 29, 1979 PATHOPHYSIOLOGY disease lasts approximately twenty-five (25) As previously stated, Joseph's Disease is a years (Rosenberg, et. al., 1978) . In rare in­ • Mr. COELHO. Mr. Speaker, as the disease of the central nervous system. It in­ stances, the disease has manifest in children. first Member of Congress of full Portu­ volves slow degeneration of pa.rticular areas It is suspected that this occurs when the guese extraction, I would like to take this of the brain which consequently results in child inherits the mutant gene from both opportunity to make my colleagues neurological impairment. The clinical ter­ parents (Coutinho and Andrade, 1978; Ros­ aware of a little known disease which is minology for the disease is Straitonigral enberg, et. al., 1978). found mostly in those of Portuguese Degeneration. This terminology identifies Type II. Type II Joseph's Disease has also descent from either the Azores Islands or some of the major parts of the brain, the been traced to the island of Flores in the corpus striatum and substantia nigra, which Azores. This form of the disease usually be­ continental Portugal. The disease is are affected by the disease (Rosenberg, et. gins later in life, about age thirty (30) and called Joseph Disease and is named after al., 1976). Autopsies performed on people is less rapid in progression than type I Anton Joseph who left the island of with Joseph's Disease have also revealed de­ (Rosenberg, et. al., 1978). It resembles type Flores in the Azores in 1845 and came to generation in areas of the cerebellum, the I in its clinical presentation except that there California. This is a neurological disease midbrain and even atrophy of the spinal cord appears to be a stronger cerebellar compo­ resulting from a genetic mutation, and (Rosenberg, et al., 1976; Rosenberg, et al., nent (Rosenberg, 1977). The cerebellum ls in an effort to create an awareness of 1979). that part of the brain which controls bal­ this tragic disorder, I would like to pre­ CLINICAL FINDINGS ance, equ111brium, and the coordination, ad­ sent a report which was prepared by This neurological disorder is not confined justment and smoothing out of movement to the Joseph family. Similar neurological (Ganong, 1975). Mrs. Mary C. Feliciano, R.N., M.S.N., impairments have developed in several other The initial symptom ls usually ataxia of who is the wife of a very good friend of families of Portuguese Azorean descent. Five gait followed by other signs of cerebellar dis­ mine. I believe that my colleagues will families in Massachusetts-all descendants turbance including truncal ataxia and ln­ find the report informative, and I would of Portuguese who emigrated from the island coordinate movement of the extremities with especially urge my colleagues from Cali­ of Flores in the Azores-have Inanifested a intension tremors, as evidenced in the ataxia fornia and Massachusetts to take note of neurological disorder similar to the Joseph of heel to shin and finger to nose maneuvers this report since the majority of the family (Rosenberg, et ail., 1978). In addition, (Coutinho and Andrade, 1978; Rosenberg, et. family members descended from W1lliam Ma­ al., 1978). Individuals with type II also de­ known cases of Joseph Disease in this chado, a native of Bretanha on the island of velop dysarthrla, dysphagia, opthalmopare­ country are found in those States. In Sao Miguel in the Azores Islands, have also sis, facial fasciculations and some muscle addition, those Members who would like developed a. similar autosoma.l dominant rigidity (Coutinho and Andrade, 1978; Ros­ more information about this tragic dis­ neurological disease (Nakano, Dawson and enberg, et. al., 1978). ease are urged to contact: International Spence, 1972). The duration of this disease ls usually Joseph Diseases Foundation Inc., P.O. Epidemiological studies of these fammes fifteen (15) to twenty (20) years. Box 2550, Livermore, Calif. 94550, (415) and others who have manifested similar dis­ Type III. Type III has also been referred to 455-0706. orders has led researchers to theorize that as Machado's Disease (Romanul, Fowler, The report fallows: these families do not have different diseases, Radvany, Feldman and Feingold, 1977). As but rather variants of the same genetic dis­ previously discussed, William Machado, a na­ JOSEPH'S DISEASE order (Rosenberg, et. al., 1978). Three vari­ tive of Bretanha on the island of Sao Miguel HISTORY ants of this autosomal dominant neurolog­ in the Azores Islands, manifested a neuro­ Joseph's Disease ls a neurological disease ical disorders have been identified: logical disease very similar to Joseph's Dis­ (disease of the central nervous system) Type I. Type I begins about age twenty­ ease. His chlldren emigrated to Massachu­ which occurs in individuals of Portuguese, five (25) with the lnltlal clinical presenta­ setts in the 19th and early 20th centuries prlmarlly Azorean, descent. The disease ls tion of a lurching, unsteady gait. This is br1ngin11; the disease with them (Nakano, et named after Anton Joseph, a man of Portu­ often accompanied by difficulty speaking al., 1972). (dysarthrla) and muscle rigidity (Coutinho guese ancestry, who emigrated to California This form of the disease has a late onset, from the island of Flores in the Azores Is­ and Andrade, 1978; Rosenberg, et al., 1976; Rosenberg, et al., 1979; Rosenberg, et al., usually after age forty (40) and the mean lands in 1845 (Rosenberg, Nyhan, Bay and duration of the disease is unknown (Cou­ Shore, 1976; Rosenberg, Thomas, Baskin, 1978). This clinical presentation has been compared to Parkinson's disease because of tinho and Andrade, 1978). The initial symp­ Kirkpatrick, Bay and Nyhan, 1979; Rosen­ tom ls also ataxia of gait. The disease mani­ berg, Nyhan, Coutinho and Bay, 1978). The the lurching gait, and to intoxication because of the slurred speech and gait impairment. fests other cerebellar deficits similar to Type neurological disorder manifested in Anton II but its distinct difference from the other Joseph, in two of his six children and sub­ Gradually, the neurological deficit progresses and additional impairments develop includ­ forms of Joseph's Disease ls the occurrence sequently in at least forty-nine other direct of symmetrical sensory and motor dlsturb­ descendants of the Joseph family. ing incoordinate contraction of the facial muscles (facial fasciculations) (Rosenberg, an~s in the arms and legs (peripheral neu­ It is surmised that Joseph's Disease is the ropathy) and loss of muscle maEs (muscle result of a genetic mutation which occurred et al., 1978; Rosenberg, et al., 1979). progres­ sion of the muscle rigidity to muscle spas­ atrophy) in these extremities (Coutinho and in an individual residing in the southern Andrade, 1978; Nakano, et al., 1972; Rosen­ portion of Portugal prior to the coloniza­ ticity, and incoordinate volutional movement (Coutinho and Andrade, 1978; Rosenberg, et berg, et al., 1978). The former disturbance in­ tion of the Azores Islands. This individual, cludes decreased sensory appreciation to pin­ an ancestor of Anton Joseph, emigrated to al.. 1976: Roi:enberg, et al., 1978). - the island of Flores where the disease devel­ Impairment of e:ve movements also oc­ prick, vibration and position of the distal oped and was subsequently propagated to curs including limitation of upward gaze extremities and decreased or absent deep the United States and Brazil (Rosenberg, et (ophthalmoparesis of vertical gaze), inab111ty tendon refiexes (Nakano, et al., 1972) . al., 1978). to turn the eyes inward (convergence) and DIAGNOSIS AND TREATMENT MODE OF TRANSMISSION a tendency for the eyes to vacillate back and Presently there is no cure for Joseph's forth (horizontal nystagmus) (Coutinho and Disease. Care focuses on palliative treatment The occurrence of the disease in offspring Andrade, 1978; Rosenberg, et. al., 1979). The identifies an autosomal dominant mode of of the physical manifestations. Some in­ eyes also assume a bulging out aopearance dividuals with Type III have benefitted from inheritance (Coutinho and Andrade, 1978; (exophthalmus) (Rosenberg, et. al., 1978) . Rosenberg, et al., 1976; Rosenberg, et al., antioarklnson medication (Rosenberg, et al. Difficulty in swallowing (dysphagia) usually 1978). • 1979; Rosenberg, et al., 1978). This means develops later in the disease (Rosenberg, et. that the dis_ease is passed from parent to Research efforts have been directed at al., 1978; Rosenberg, et. al., 1979). identifying a molecular marker for the dis­ child through genes and that the disease can These neurological deficits progressively occur in the offspring if only one parent has ease which could be used to identify affected the disease. This results in a 50 % chance of debilitate the affected individual but men­ individuals. If these individuals could be tal alertness and intellect is preserved (Cou- identified prior to their reproductive years, •This "bullet" symbol identifies statements or insertions which are not spoken by the Member on the floor. 30008 EXTENSIONS OF REMARKS October 29, 1979 genetic counseling could be utlllzed to a.c­ I am referring to a 12-mile fund­ unnecessary amendments are added to qua.ln t these individuals with the exact per­ raising walk being sponsored by the various legislative proposals, such as centage of risk of transmitting the disease community of Beltsville, Md., just a few military appropriations bills.