Unusual clinical presentation of dystrophin‐deficient feline muscular dystrophy in the UK

Eiras-Diaz, Aldara; Prisco, Francesco; Paciello, Orlando; Waine, Katie; Baiker, Kerstin; Housley, Daniel; Gardini, Aldo; Florey, Jessica

doi:10.1136/vetreccr-2019-000983

Cited by 3 publications

(11 citation statements)

References 27 publications

(89 reference statements)

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“…Additional CK isoenzyme analyses revealed an exclusive increase in serum CK‐MM activity (93%), reflecting leakage from mature or somewhat immature myofibers 27 . Furthermore, the onset of clinical signs occurred at 3 years of age (late‐onset), with a mild clinical course compared with previously reported cases 5,6,8,9,11‐14 . The case did not present with megaesophagus associated with diaphragmatic hypertrophy.…”

Section: Discussionmentioning

confidence: 65%

“…To date, genetic characterization has been performed in few cases 14‐16 . The most prominent clinical features of cats with FXMD include symmetrical skeletal muscular hypertrophy, slow gait, and dyspnea, with some cats also showing megaesophagus concurrent with hypertrophy of the diaphragm and tongue, leading to feeding difficulties 5‐13,15 . Relevant increases in CK and AST activity are usually observed.…”

Section: Discussionmentioning

confidence: 99%

“…X‐linked muscular dystrophy in cats, formerly known as hypertrophic feline muscular dystrophy, 6 is characterized by skeletal muscle hypertrophy in cats. 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 X‐linked muscular dystrophy in cats is diagnosed based on clinical presentation, blood chemistry, EMG, histopathology, and immunohistochemistry. 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 To date, genetic characterization has been performed in few cases.…”

Section: Discussionmentioning

confidence: 99%

“…5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 X‐linked muscular dystrophy in cats is diagnosed based on clinical presentation, blood chemistry, EMG, histopathology, and immunohistochemistry. 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 To date, genetic characterization has been performed in few cases. 14 , 15 , 16 The most prominent clinical features of cats with FXMD include symmetrical skeletal muscular hypertrophy, slow gait, and dyspnea, with some cats also showing megaesophagus concurrent with hypertrophy of the diaphragm and tongue, leading to feeding difficulties.…”

Section: Discussionmentioning

confidence: 99%

“…Such cases are characterized by muscle hypertrophy and designated as X‐linked muscular dystrophy in cats (FXMD). 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 Disease progression varies depending on the case; for example, one had a juvenile‐onset and severe clinical course, 14 and the other showed an adult‐onset that produces relatively mild clinical course. 15 …”

Section: Introductionmentioning

confidence: 99%

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Association of a novel dystrophin (DMD) genetic nonsense variant in a cat with X‐linked muscular dystrophy with a mild clinical course

Muto,

Yu,

Chambers

et al. 2024

Veterinary Internal Medicne

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X‐linked muscular dystrophy in cats (FXMD) is an uncommon disease, with few reports describing its pathogenic genetic variants. A 9‐year‐old castrated male domestic shorthair cat was presented with persistent muscle swelling and breathing difficulty from 3 years of age. Serum activity of alanine aminotransferase, aspartate transaminase, and creatine kinase were abnormally high. Physical and neurological examinations showed muscle swelling in the neck and proximal limb, slow gait, and occasional breathing difficulties. Electromyography showed pseudomyotonic discharges and complex repetitive discharges with a “dive‐bomber” sound. Histopathology revealed muscle necrosis and regeneration. Whole‐genome sequencing identified a novel and unique hemizygous nonsense genetic variant, c.8333G > A in dystrophin (DMD), potentially causing a premature termination codon (p.Trp2778Ter). Based on a combination of clinical and histological findings and the presence of the DMD nonsense genetic variant, this case was considered FXMD, which showed mild clinical signs and long‐term survival, even though immunohistochemical characterization was lacking.

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Section: Discussionmentioning

confidence: 65%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Association of a novel dystrophin (DMD) genetic nonsense variant in a cat with X‐linked muscular dystrophy with a mild clinical course

Muto,

Yu,

Chambers

et al. 2024

Veterinary Internal Medicne

View full text Add to dashboard Cite

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A de novo nonsense variant in the DMD gene associated with X‐linked dystrophin‐deficient muscular dystrophy in a cat

Yokoyama,

Matsumoto,

Yamaguchi

et al. 2024

Veterinary Internal Medicne

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BackgroundX‐linked dystrophin‐deficient muscular dystrophy (MD) is a form of MD caused by variants in the DMD gene. It is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles.Hypothesis/ObjectivesIdentify deleterious genetic variants in DMD by whole‐genome sequencing (WGS) using a next‐generation sequencer.AnimalsOne MD‐affected cat, its parents, and 354 cats from a breeding colony.MethodsWe compared the WGS data of the affected cat with data available in the National Center for Biotechnology Information database and searched for candidate high‐impact variants by in silico analyses. Next, we confirmed the candidate variants by Sanger sequencing using samples from the parents and cats from the breeding colony. We used 2 genome assemblies, the standard felCat9 (from an Abyssinian cat) and the novel AnAms1.0 (from an American Shorthair cat), to evaluate genome assembly differences.ResultsWe found 2 novel high‐impact variants: a 1‐bp deletion in felCat9 and an identical nonsense variant in felCat9 and AnAms1.0. Whole genome and Sanger sequencing validation showed that the deletion in felCat9 was a false positive because of misassembly. Among the 357 cats, the nonsense variant was only found in the affected cat, which indicated it was a de novo variant.Conclusion and Clinical ImportanceWe identified a de novo variant in the affected cat and next‐generation sequencing‐based genotyping of the whole DMD gene was determined to be necessary for affected cats because the parents of the affected cat did not have the risk variant.

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Feline dystrophin-deficient muscular dystrophy misdiagnosed as Toxoplasma myositis

Reynolds,

Marks,

Guo

et al. 2024

Journal of Feline Medicine and Surgery Open Reports

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Case summary A 6-month-old male entire domestic shorthair cat presented for presumptive Toxoplasma myopathy that was non-responsive to antiprotozoal therapy. Clinical features included marked macroglossia, dysphagia, regurgitation, truncal muscle hypertrophy, pelvic limb gait abnormalities and megaoesophagus. Relevant diagnostics included serial creatine kinase activity, cardiac troponin I, fluoroscopic swallow study and routine muscle histopathology. Ultimately, post-mortem histopathology with immunostaining demonstrated markedly decreased or absent staining for the rod and carboxy terminus of dystrophin, confirming a dystrophin-deficient muscular dystrophy (MD). The misdiagnosis of toxoplasmosis was based on an increased IgG titre and muscle histopathology submitted to a local laboratory. Treatment for megaoesophagus included vertical feeding of wet food only, sildenafil and omeprazole. Dysphagia and regurgitation improved moderately. Presumptive hyperaesthesia and muscle pain were managed with anti-inflammatory doses of prednisolone. The patient was ultimately euthanased as a result of progressive MD signs and uraemia at 2 years of age. Relevance and novel information This case report highlights the collective clinical features of MD, as they could be considered pathognomonic for this rare condition and must be differentiated from other myopathies via specific immunostaining of muscle biopsies. This is crucial to obtain a correct and early diagnosis, allowing instigation of potentially valuable treatments. Megaoesophagus is an inconsistent feature in feline MD in addition to the more commonly observed oropharyngeal dysphagia. Management with a canned diet, sildenafil, omeprazole and upright feeding was beneficial with moderate improvement in the frequency of regurgitation. Prednisolone was thought to minimise the presumptive myalgia.

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Unusual clinical presentation of dystrophin‐deficient feline muscular dystrophy in the UK

Cited by 3 publications

References 27 publications

Association of a novel dystrophin (DMD) genetic nonsense variant in a cat with X‐linked muscular dystrophy with a mild clinical course

Association of a novel dystrophin (DMD) genetic nonsense variant in a cat with X‐linked muscular dystrophy with a mild clinical course

A de novo nonsense variant in the DMD gene associated with X‐linked dystrophin‐deficient muscular dystrophy in a cat

Feline dystrophin-deficient muscular dystrophy misdiagnosed as Toxoplasma myositis

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