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megaconial type congenital muscular dystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Delayed speech and language development, Progressive muscle deterioration (muscular dystrophy), and Mitochondrial hypertrophy and others; and common findings: Microcephaly and Enlarged and weakened heart (dilated cardiomyopathy). 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Poor speech, Delayed speech and language development, Seizure
Muscles	5	Myopathy, Progressive muscle deterioration (muscular dystrophy), Generalized hypotonia
Head and neck	2	Facial palsy, Microcephaly
Lab test results	1	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration)
Skin	1	Dry, scaly skin (ichthyosis)
Heart and blood vessels	1	Enlarged and weakened heart (dilated cardiomyopathy)

Age of onset: infancy.

GeneReviews

Clinical Guidance

To date, 47 individuals have been identified with CHKB-related muscular dystrophy (CHKB-MD) [, , , , , , , , , , , , , , , , ]. Forty-four had congenital muscular dystrophy and three had adolescent-onset limb-girdle muscular dystrophy. The following description of the phenotypic features associated with CHKB-MD is based on these reports .

Table 2.

CHKB-Related Muscular Dystrophy: Frequency of Select Features

Features | Phenotype

Congenital muscular dystrophy (n=44) | Limb-girdle muscular dystrophy (n=3)

Muscular dystrophy | • 11/44 were able to sit but not walk.

Of the 34 whose walking age was known, 8 walked at usual age 26 were delayed.
3 eventually lost ambulation.

| • All started walking at usual age.

2 had presented w/adolescent- or adult-onset rhabdomyolysis.

DD/ID | • All 44 had DD/ID.

Source: GeneReviews — "CHKB-Related Muscular Dystrophy"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No diagnostic criteria have been published for CHKB-related muscular dystrophy (CHKB-MD).

Suggestive Findings

CHKB-MD should be suspected in a proband with the following clinical, laboratory, and imaging findings and family history.

Clinical Findings

Congenital muscular dystrophy (CMD)

Source: GeneReviews — "CHKB-Related Muscular Dystrophy"

GeneReviews

Differential Diagnosis

Disorders of interest in the differential diagnosis of CHKB-related muscular dystrophy (CHKB-MD) are summarized in: • . Muscular Dystrophies Associated with Neurobehavioral Disorders; • . Limb-Girdle Muscular Dystrophies Associated with Cardiomyopathy; • . Metabolic Disorders Associated with Recurrent Rhabdomyolysis. Of note, none of the disorders listed in , , and are associated with peripheral accumulation of giant (enlarged) mitochondria in muscle fibers. Table 3. Differential Diagnosis of CHKB-Related Muscular Dystrophy: Muscular Dystrophies Associated with Neurobehavioral Disorders

Gene	Disorder	MOI	Features of Differential Diagnosis
Similar to CHKB-MD	Distinguishing from CHKB-MD B3GALNT21GMPPB2POMGNT13	Alpha-dystroglycanopathy (muscle-eye-brain disease; Walker-Warburg syndrome)

Genetic testing for CHKB is available. Testing is considered confirmatory for diagnosis.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for megaconial type congenital muscular dystrophy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical guidelines for CHKB-related muscular dystrophy (CHKB-MD) have been published. Management should follow the Standard of Care Guidelines for congenital muscular dystrophy . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with CHKB-MD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 6. Recommended Evaluations Following Initial Diagnosis in Individuals with CHKB-Related Muscular Dystrophy

System/Concern	Evaluation	Comments
Muscle weakness	By neurologist	To incl assessment of muscle tone, muscle strength of upper lower limbs, neck trunk, deep tendon reflexes for hypotonia hypo-/areflexia that often occur w/muscle weakness Seizures
Musculoskeletal complications/ Limitations on ADL	By physical medicine rehab physician/ PT OT	To incl assessment of:; Gross motor fine motor skills; Mobility, ADL, need for adaptive devices; PT to improve gross motor skills; OT to improve fine motor skills By orthopedist
Intellectual disability	By developmental pediatrician/ clinical psychologist	To incl assessment of; Developmental performance; Adaptive cognitive eval; Need for early intervention/ special education support
Speech delay	By speech-language pathologist	To incl assessment of language need for ongoing speech-language therapy

Source: GeneReviews — "CHKB-Related Muscular Dystrophy"

GeneReviews

Clinical Guidance

Avoid strenuous exercise and viral infection, as in some affected individuals these may exacerbate muscle weakness.

Source: GeneReviews — "CHKB-Related Muscular Dystrophy"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "CHKB-Related Muscular Dystrophy"

Clinical Trials

View trials for megaconial type congenital muscular dystrophy

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Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Surveillance recommendations – which include evaluations to monitor existing neurologic features and assess for the emergence of new findings/concerns – are intended to promote development, mitigate comorbidities, and optimize function while maximizing quality of life . Table 8. Recommended Surveillance for Individuals with CHKB-Related Muscular Dystrophy

System/Concern	Evaluation	Frequency
Muscle weakness	Assess for progression of weakness.	Every 6-12 mos
Seizures	Assess response to medications.	Every 3-6 mos
Development	Monitor developmental progress educational needs.	At each visit
Speech development	Assess for response to interventions new manifestations	Every 6-12 mos Behavioral
Cardiomyopathy	Cardiac assessment monitoring	Every 6 mos, if stable; Every 2-3 mos, if adjusting medications Musculoskeletal complications/ Limitations on ADL
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit ADL = activities of daily living

Source: GeneReviews — "CHKB-Related Muscular Dystrophy"

Phenotype severity distribution: 8 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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megaconial type congenital muscular dystrophy

Overview

Clinical Presentation

Clinical Guidance

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Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

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Medical References

External Resources

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megaconial type congenital muscular dystrophy

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team