Myopathy, Myofibrillar, 8 (MFM8)

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Disease Ontology 12 DOID:0080308 OMIM 56 617258 OMIM Phenotypic Series 56 PS601419

MeSH 43 D020914 MedGen 41 C4310645 CN239575 SNOMED-CT via HPO 68 111266001 11934000 12351004 17211005 193093009 203534009 205091006 205294008 229645001 248268002 248328003 258211005 27272007 274715008 275498002 282195009 282479002 288939007 289190003 298294005 32958008 349006 37280007 405946002 40739000 53226007 607007 64217002 699222000 85905009 95666008 more

UniProtKB/Swiss-Prot : ⁷³ Myopathy, myofibrillar, 8: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM8 is an autosomal recessive form, clinically characterized by slowly progressive symmetrical weakness affecting both proximal and distal muscles, with normal to moderately elevated creatine kinase. Mild facial weakness, a high palate, nasal speech, and swallowing difficulties are typical features, mild restrictive lung disease is common, and late-onset cardiac involvement may be present.

MalaCards based summary : Myopathy, Myofibrillar, 8, also known as myofibrillar myopathy 8, is related to spinocerebellar ataxia, autosomal recessive 10 and autosomal recessive limb-girdle muscular dystrophy type 2x. An important gene associated with Myopathy, Myofibrillar, 8 is PYROXD1 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1). Affiliated tissues include lung, and related phenotypes are scoliosis and ptosis

Disease Ontology : ¹² A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.

OMIM : ⁵⁶ Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). (617258)

Clinical features from OMIM:

617258

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