- Email: [email protected]
N.P.1 08 Monomelic amyotrophy: study of two cases
650
Abstracts / Neuromuscular Disorders 16 (2006) 644–726
tion makes identification of patients with malignant transformation possible and thereby facilitates the initiation of early treatment and frequent follow-up in these patients. doi:10.1016/j.nmd.2006.05.033
N.P.1 06 Distal hereditary motor neuropathies A.P. Geraldo *, L. Negra˜o, A. Matos, A. Morgadinho Hospitais Universidade de Coimbra, Coimbra, Portugal Hereditary distal motor neuropathy (HDMN) is a group of genetically and clinically heterogeneous disorders with an autosomal recessive or dominant mode of inheritance. Clinically is characterized by chronic muscle weakness and wasting of distal limb muscles. To present the clinical and laboratory results of a group of 10 patients with HDMN diagnosed between 2000 and 2005. The clinical files of ten patients diagnosed with HDMN in the last five years were reviewed regarding clinical data and results of laboratory tests. There was equal gender distribution. At the time of diagnosis, the youngest patient was 26 years of age and the eldest 58. The first symptoms began in infancy or adolescence in six patients and in adulthood in the remaining. Nine patients presented muscular weakness and atrophy distally in the lower limbs and in three of these, the upper limbs were involved some later. Only one patient had simultaneous involvement of distal upper and lower limbs muscles. Two patients had pes cavus and another Achilles tendon retraction. No patient lost independent ambulation. Sensory examination was normal. Four patients had a positive family history for the same disease. In the electrodiagnostic studies sensory potentials were preserved and muscle examination with needle electrode showed signs of chronic denervation, most significant in the distal muscles. A muscular biopsy was performed in four patients that demonstrated neurogenic muscular atrophy. All patients went through genetic study but no mutation was found (SNMt and NAIPt genes). The HDMN is a rare disease, clinically and genetically heterogeneous. This group of patients is homogeneous for the clinical presentation, where the muscular weakness and atrophy were always predominant in the distal muscles of the upper and lower limbs. The fact that all genetic studies were negative for mutations in the SNMt and NAIPt genes, clear set apart this group of patients from the classical form of spinal muscular atrophy. doi:10.1016/j.nmd.2006.05.034
N.P.1 07 Rituximab for IgM MGUS polyneuropathy: an uncontrolled trial J.M.F. Niermeijer 1,*, M. Eurelings 1, H. Lokhorst 2, H. Franssen 3, J.H.J. Wokke 1, N.C. Notermans 1 1 University Medical Center Utrecht, Department of Neurology, Utrecht, The Netherlands; 2 University Medical Center Utrecht, Department of Hematology, Utrecht, The Netherlands; 3 University Medical Center Utrecht, Department of Clinical Neurophysiology, Utrecht, The Netherlands Rituximab is a monoclonal antibody directed at CD 20 positive B cells that has shown efficacy in hematological malignancies and more recently in IgM MGUS polyneuropathy. Suppression of B cells decreases the IgM concentration and we studied if it can induce improvement of disabling symptoms in IgM MGUS polyneuropathy. Patients with IgM MGUS polyneuropathy, without a hematological malignancy or other underlying causes, and disabling symptoms were treated with intravenous rituximab 375 mg/m2 once weekly for 4
weeks and were prospectively followed at 0, 3, 6, and 12 months. Bone marrow biopsy and EMG recordings were performed before and after treatment. Primary outcome measure was improvement of the Overall Disability Scale (ODSS). Secondary outcome measures were the Modified Rankin Scale, Rivermead mobility index, MRC sum score, sensory sum score, SF 36 quality of life scale, serum IgM concentration, percentage of B cells, CD 20 positive B cells and plasma cells in bone marrow biopsy and change of EMG findings. At present we have included 12 patients. Nine were male, two showed anti-MAG antibodies and ten had demyelination on EMG recordings. Mean age was 62 (SD 7.3) years, disease duration 5.7 (SD 3.8) years and IgM concentration 6.9 (SD 3.9) g/l at start. After a mean follow-up of 8 months (1–24) it was possible to analyze scores before and after treatment of 9 patients: the ODSS score improved in 3/9 and stabilized in 6/9 patients. 4/9 patients improved on the RMI, 4/9 on the MRC sum score and 4/9 on the sensory sum score. In total 6/9 patients showed response to therapy on one of the outcome measures. Bone marrow investigations showed disappearance of CD 20 B cells in 5/5 patients. There were no serious side effects. In conclusion, rituximab can safely induce clinical response in patients with IgM MGUS polyneuropathy. doi:10.1016/j.nmd.2006.05.035
N.P.1 08 Monomelic amyotrophy: study of two cases N. Fahmy * Muscle Research Laboratory, Neuropsychiatry Department, Ain Shams University, Cairo, Egypt Focal atrophy of an individual muscle or a group of muscles, that often encountered clinically, may create diagnostic and therapeutic challenges. A wide variety of neurological and non-neurological disorders may present with focal muscular atrophy. Monomelic amyotrophy is defined in several reports as a benign disorder characterized by wasting confined to a single limb or part of a limb. The disorder is generally sporadic, involving young men but familial occurrence is also reported. It is common in Asian countries such as Korea, India and Japan, although recent reports come from France, Germany, Italy, Canada and Brazil. We present two patients with monomelic amyotrophy, one Afghany and one Ethiopian patient. Clinical, laboratory, neurophysiological, radiological and histopathological studies were done. Neurophysiological study showed findings of anterior horn cell lesion and normal nerve conduction study. Muscle biopsy of the two patients showed neurogenic muscle biopsy with small groups of angulated atrophic fibers. The results support the hypothesis that monomelic amyotrophy is a form-frost of spinal muscular atrophy. Further genetic assessment of these patients is still needed but proper diagnosis of is important for further management. doi:10.1016/j.nmd.2006.05.036
N.P.1 09 Genetic epidemiology of familial amyloid polyneuropathy in Portugal T. Coelho 1,*, A.M. Silva 2, L. Maia 2, A. Sousa 2 1 Hospital Santo Antonio, Porto, Portugal; 2 Instituto de Ciencias Biome´dicas, Porto, Portugal Familial amyloid polyneuropathy (FAP) is a hereditary neuropathy highly prevalent in Portugal. To describe the genetic epidemiology of the Portuguese focus. We reviewed our register that includes 2184 patients observed between 1939 and December 2005. Molecular diagnosis, sex distribution, and age of onset were analyzed. Variability of
Abstracts / Neuromuscular Disorders 16 (2006) 644–726
tion makes identification of patients with malignant transformation possible and thereby facilitates the initiation of early treatment and frequent follow-up in these patients. doi:10.1016/j.nmd.2006.05.033
N.P.1 06 Distal hereditary motor neuropathies A.P. Geraldo *, L. Negra˜o, A. Matos, A. Morgadinho Hospitais Universidade de Coimbra, Coimbra, Portugal Hereditary distal motor neuropathy (HDMN) is a group of genetically and clinically heterogeneous disorders with an autosomal recessive or dominant mode of inheritance. Clinically is characterized by chronic muscle weakness and wasting of distal limb muscles. To present the clinical and laboratory results of a group of 10 patients with HDMN diagnosed between 2000 and 2005. The clinical files of ten patients diagnosed with HDMN in the last five years were reviewed regarding clinical data and results of laboratory tests. There was equal gender distribution. At the time of diagnosis, the youngest patient was 26 years of age and the eldest 58. The first symptoms began in infancy or adolescence in six patients and in adulthood in the remaining. Nine patients presented muscular weakness and atrophy distally in the lower limbs and in three of these, the upper limbs were involved some later. Only one patient had simultaneous involvement of distal upper and lower limbs muscles. Two patients had pes cavus and another Achilles tendon retraction. No patient lost independent ambulation. Sensory examination was normal. Four patients had a positive family history for the same disease. In the electrodiagnostic studies sensory potentials were preserved and muscle examination with needle electrode showed signs of chronic denervation, most significant in the distal muscles. A muscular biopsy was performed in four patients that demonstrated neurogenic muscular atrophy. All patients went through genetic study but no mutation was found (SNMt and NAIPt genes). The HDMN is a rare disease, clinically and genetically heterogeneous. This group of patients is homogeneous for the clinical presentation, where the muscular weakness and atrophy were always predominant in the distal muscles of the upper and lower limbs. The fact that all genetic studies were negative for mutations in the SNMt and NAIPt genes, clear set apart this group of patients from the classical form of spinal muscular atrophy. doi:10.1016/j.nmd.2006.05.034
N.P.1 07 Rituximab for IgM MGUS polyneuropathy: an uncontrolled trial J.M.F. Niermeijer 1,*, M. Eurelings 1, H. Lokhorst 2, H. Franssen 3, J.H.J. Wokke 1, N.C. Notermans 1 1 University Medical Center Utrecht, Department of Neurology, Utrecht, The Netherlands; 2 University Medical Center Utrecht, Department of Hematology, Utrecht, The Netherlands; 3 University Medical Center Utrecht, Department of Clinical Neurophysiology, Utrecht, The Netherlands Rituximab is a monoclonal antibody directed at CD 20 positive B cells that has shown efficacy in hematological malignancies and more recently in IgM MGUS polyneuropathy. Suppression of B cells decreases the IgM concentration and we studied if it can induce improvement of disabling symptoms in IgM MGUS polyneuropathy. Patients with IgM MGUS polyneuropathy, without a hematological malignancy or other underlying causes, and disabling symptoms were treated with intravenous rituximab 375 mg/m2 once weekly for 4
weeks and were prospectively followed at 0, 3, 6, and 12 months. Bone marrow biopsy and EMG recordings were performed before and after treatment. Primary outcome measure was improvement of the Overall Disability Scale (ODSS). Secondary outcome measures were the Modified Rankin Scale, Rivermead mobility index, MRC sum score, sensory sum score, SF 36 quality of life scale, serum IgM concentration, percentage of B cells, CD 20 positive B cells and plasma cells in bone marrow biopsy and change of EMG findings. At present we have included 12 patients. Nine were male, two showed anti-MAG antibodies and ten had demyelination on EMG recordings. Mean age was 62 (SD 7.3) years, disease duration 5.7 (SD 3.8) years and IgM concentration 6.9 (SD 3.9) g/l at start. After a mean follow-up of 8 months (1–24) it was possible to analyze scores before and after treatment of 9 patients: the ODSS score improved in 3/9 and stabilized in 6/9 patients. 4/9 patients improved on the RMI, 4/9 on the MRC sum score and 4/9 on the sensory sum score. In total 6/9 patients showed response to therapy on one of the outcome measures. Bone marrow investigations showed disappearance of CD 20 B cells in 5/5 patients. There were no serious side effects. In conclusion, rituximab can safely induce clinical response in patients with IgM MGUS polyneuropathy. doi:10.1016/j.nmd.2006.05.035
N.P.1 08 Monomelic amyotrophy: study of two cases N. Fahmy * Muscle Research Laboratory, Neuropsychiatry Department, Ain Shams University, Cairo, Egypt Focal atrophy of an individual muscle or a group of muscles, that often encountered clinically, may create diagnostic and therapeutic challenges. A wide variety of neurological and non-neurological disorders may present with focal muscular atrophy. Monomelic amyotrophy is defined in several reports as a benign disorder characterized by wasting confined to a single limb or part of a limb. The disorder is generally sporadic, involving young men but familial occurrence is also reported. It is common in Asian countries such as Korea, India and Japan, although recent reports come from France, Germany, Italy, Canada and Brazil. We present two patients with monomelic amyotrophy, one Afghany and one Ethiopian patient. Clinical, laboratory, neurophysiological, radiological and histopathological studies were done. Neurophysiological study showed findings of anterior horn cell lesion and normal nerve conduction study. Muscle biopsy of the two patients showed neurogenic muscle biopsy with small groups of angulated atrophic fibers. The results support the hypothesis that monomelic amyotrophy is a form-frost of spinal muscular atrophy. Further genetic assessment of these patients is still needed but proper diagnosis of is important for further management. doi:10.1016/j.nmd.2006.05.036
N.P.1 09 Genetic epidemiology of familial amyloid polyneuropathy in Portugal T. Coelho 1,*, A.M. Silva 2, L. Maia 2, A. Sousa 2 1 Hospital Santo Antonio, Porto, Portugal; 2 Instituto de Ciencias Biome´dicas, Porto, Portugal Familial amyloid polyneuropathy (FAP) is a hereditary neuropathy highly prevalent in Portugal. To describe the genetic epidemiology of the Portuguese focus. We reviewed our register that includes 2184 patients observed between 1939 and December 2005. Molecular diagnosis, sex distribution, and age of onset were analyzed. Variability of