The age at onset ranges from infancy to young adulthood, and patients can present with different features, including hearing loss, delayed motor development, or difficulty walking due to peripheral neuropathy and/or cerebellar ataxia. [ncbi.nlm.nih.gov]

Results: From the exome data, only one variant in the AIFM1 gene (apoptosis-inducing factor, mitochondrion-associated 1) was both present in the linkage region and segregated with the disease. [n.neurology.org]

Hammertoes and pes cavus deformity are present in most adult patients, who are usually able to walk short distances unassisted and experience moderate disability in adulthood. [accesspediatrics.mhmedical.com]

• Weakness

  Diagnosis Based on the clinical findings in infants with foot drop, clawing of fingers, and progressive atrophy and weakness of peroneal and other distal foot muscles in combination with a positive family history. [accesspediatrics.mhmedical.com]

  X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness [mendelian.co]

  NADMR, NAMSD, PDCD8, SEMDHL, AIFM1 Summary: apoptosis inducing factor mitochondria associated 1 Show allHide all Abnormality of metabolism/homeostasis Elevated circulating creatine kinase concentration Abnormality of the musculoskeletal system Muscle weakness [ncbi.nlm.nih.gov]

  CMTX4 or Cowchock syndrome is clinically characterized by severe, early onset distal weakness and sensory loss with deafness and mental retardation. [n.neurology.org]

  According to the website Online Mendelian Inheritance in Man, it causes "motor sensory neuropathy," which results in muscle weakness. It also frequently causes deafness and mental retardation. [wikidoc.org]

• Asymptomatic

  Females are asymptomatic and do not display the phenotype. [mendelian.co]

• Hearing Impairment

  impairment Scoliosis Ataxia Sensorineural hearing impairment Muscle weakness Cognitive impairment Peripheral neuropathy Skeletal muscle atrophy And another 16 symptoms. [mendelian.co]

  Distal sensory impairment Intellectual disability Motor axonal neuropathy Sensory axonal neuropathy Sensory neuropathy Ear malformation Hearing impairment Sensorineural hearing loss disorder IMPORTANT NOTE: NIH does not independently verify information [ncbi.nlm.nih.gov]

  Affiliated tissues include brain and peripheral nerve, and related phenotypes are sensorineural hearing impairment and cognitive impairment UniProtKB/Swiss-Prot: 73 A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, [malacards.org]

• Peripheral Neuropathy

  The age at onset ranges from infancy to young adulthood, and patients can present with different features, including hearing loss, delayed motor development, or difficulty walking due to peripheral neuropathy and/or cerebellar ataxia. [ncbi.nlm.nih.gov]

  Mendelian Rare Diseases COWCHOCK SYNDROME; COWCK X-linked Charcot-marie-tooth Disease Type 4 Description X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive [mendelian.co]

• Tremor

  Additional more variable features can include cognitive impairment, cerebellar atrophy on brain imaging, cerebellar signs, such as dysarthria, abnormal extraocular movements, tremor, and dysmetria, as well as spasticity. [ncbi.nlm.nih.gov]

  Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood. [malacards.org]

• Global Developmental Delay

  Genes related to X-linked Charcot-marie-tooth Disease Type 4 AIFM1 RAB33A View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to X-linked Charcot-marie-tooth Disease Type 4 Intellectual disability Global developmental [mendelian.co]

• Areflexia

  to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia [mendelian.co]

Treatment is surgical excision and some cases need sclerotherapy. [peertechzpublications.com]

Prolonged treatment with riboflavin may result in some mild improvement in the ataxia (summary by Rinaldi et al., 2012, Heimer et al., 2018, Bogdanova-Mihaylova et al., 2019). [ncbi.nlm.nih.gov]

Risk calculators and risk factors for Cowchock Wapner Kurtz syndrome Healthcare Provider Resources Symptoms of Cowchock Wapner Kurtz syndrome Causes & Risk Factors for Cowchock Wapner Kurtz syndrome Diagnostic studies for Cowchock Wapner Kurtz syndrome Treatment [wikidoc.org]

This case is illustrative of Cowchock Wapner Kurtz syndrome, rare disorder of genetic etiology currently not clarified. [peertechzpublications.com]

Analysis of additional AIFM1 mutations may help to further unravel the pathophysiology of AIF defects, to identify proteins dependent on AIF activity, and to determine the exact role of AIF in mitochondria. [ncbi.nlm.nih.gov]