Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years

Schänzer, Anne; Görlach, Jonas; Claudi, Kerstin; Hahn, Andreas

doi:10.1016/j.nmd.2019.03.004

Cited by 11 publications

(10 citation statements)

References 20 publications

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“…The data are in line with other reports showing a worse response to therapy in patients with severely damaged MFs with worse pathology indicating the need for early therapy in patients with minor pathology . But even early therapy does not predict a good clinical outcome in all patients . However, the underlying reason why the efficiency of therapy is restricted is not fully understood.…”

Section: Discussionsupporting

confidence: 88%

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

Kulessa

Weyer-Menkhoff

Viergutz

et al. 2019

Neuropathology Appl Neurobio

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Section: Discussionsupporting

confidence: 88%

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

Kulessa

Weyer-Menkhoff

Viergutz

et al. 2019

Neuropathology Appl Neurobio

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“…Two patients did not show any dorsiflexor weakness (age 5.4 and 8.2 years at study-end). A recent case study reports subacute – over several months – development of dorsiflexor weakness at an older age (6.5 years), attributed to progressive myopathy and possibly also minor peripheral nerve involvement [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…The pathophysiological process underlying the distal muscle weakness is still not fully understood. Several factors might play a role, including extensive involvement of distal muscles in the myopathic process [ 20 , 27 ], and potential neurogenic involvement due to glycogen storage in the central [ 28 – 30 ] and peripheral nervous system [ 20 , 31 , 32 ]. Detailed radiological, electrodiagnostic and histological studies in larger numbers of patients are needed to provide a better understanding of the underlying etiology.…”

Section: Discussionmentioning

confidence: 99%

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients

Dorpel

Poelman

Harlaar

et al. 2020

Orphanet J Rare Dis

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Background Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit distal muscle weakness at an early age, which is in contrast to the primarily proximal and axial muscle weakness in patients with late-onset Pompe disease. This was reason to study the prevalence and severity of distal muscle weakness, and the sequence of muscle involvement over time in patients that had learned to walk under ERT. Methods In this prospective, single-center cohort study, we studied 16 classic infantile patients. We used video recordings that were made during regular standardized assessments to investigate distal muscle function (active dorsiflexion of the feet during walking; ability to use a pincer grasp/actively extend the fingers) and proximal muscle function (standing up from a supine position; raising the arms above the head). Results Median age at start of ERT was 3.2 months (0.1–5.8 months), median age at study end was 5.6 years (2.9–18.2 years). Six patients (6/16, 38%) initially had no evident signs of distal muscle weakness and developed a gait with active dorsiflexion of the feet. The other 10 patients never exhibited active dorsiflexion of the feet during walking. At study-end two patients showed no loss of distal muscle function. A subset of five patients (5/16, 31%) developed also weakness of the hands, particularly of the extensors of the 3rd and 4th digit. Conclusions We found that the majority (14/16, 88%) of patients who had learned to walk exhibited distal muscle weakness of the lower extremities, while a subset (5/16, 31%) also developed weakness of the hands. The distal muscle weakness was often more serious than, and preceded the development of, the proximal muscle weakness.

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“…Low amounts of glycogen are stored in the brain of patients with IOPD [34].Signal alterations predominantly of the central white matter and progressive in some individuals, have been reported by several authors [4,11,12,36,38]. Earlier reports assessing neurocognitive function in smaller groups of patients suggested a normal or only mildly delayed cognitive development [10,39].…”

Section: Neurocognitive Problemsmentioning

confidence: 92%

“…After several years of treatment, even subjects responding initially well to ERT show progression of muscle weakness, often causing loss of acquired motor milestones [3,15,16,33]. Older ambulant IOPD patients have a characteristic gait pattern with forward leaning of the trunk and increased lordosis due to pelvic tilt, as well as steppage gait caused by prominent weakness of the foot dorsiflexors [5,38]. Marked lumbar hyperlordosis together with progressive scoliosis may require spinal fusion in some.…”

Section: Musculoskeletal Problemsmentioning

confidence: 99%

Diagnosis and Care of Infants and Children with Pompe Disease

et al. 2020

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Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal α-glucosidase. Reduced enzyme activity results in abnormal intra- and extralysosomal glycogen deposition as well as impaired cellular function and autophagy. Age at manifestation and severity of disease depend on residual enzyme activity. Enzyme replacement therapy (ERT) is available since 2006. In infantile onset Pompe disease, the most severe form, markedly prolonged survival has resulted in a new phenotype with symptoms and problems not encountered previously. In addition, it became apparent that antibody formation against the recombinant human enzyme may adversely affect the response to ERT. This review summarizes new knowledge gained in the last years concerning care of pediatric patients with Pompe disease and gives recommendations for diagnostics, treatment, and follow-up.

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Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years

Cited by 11 publications

References 20 publications

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients

Diagnosis and Care of Infants and Children with Pompe Disease

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