Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. [ncbi.nlm.nih.gov]

In many congenital muscular dystrophy sub types, muscle weakness can increase with time and can lead to respiratory problems. [mobilephysiotherapyclinic.in]

[…] distal weakness RSMD Merosin def CMD 74. [slideshare.net]

[…] distal leg weakness. [emedicine.medscape.com]

Early weakness of the scapular muscles produces prominent scapular winging and gives the shoulders a forward, sloped appearance. Weakness in the anterior tibial muscles, which leads to footdrop, is always present. [what-when-how.com]

Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive [ncbi.nlm.nih.gov]

Some of the more rarer forms of CMD can result in significant learning disabilities. [mobilephysiotherapyclinic.in]

[…] bilateral multicystic leucodystrophy Disease definition A rare, genetic, congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability [orpha.net]

Mental retardation (MR), better known as intellectual disability (ID) - is a lifelong disability that presents mostly in infancy or early childhood. It is characterized by below-average intelligence or mental ability. [centogene.com]

The prognosis for MEB varies depending on the severity of the condition. [4] Some individuals only experience congenital muscular dystrophy; however, most additionally have severe vision loss and intellectual disability. [1] Last updated: 11/11/2016 If [rarediseases.info.nih.gov]

[…] features include cardiac conduction defects, mild mental dysfunction (often with silly or inappropriate behavior and expressions), testicular atrophy, frontal baldness, cataracts, gastrointestinal tract involvement (with delayed motility and emptying), hypersomnia [what-when-how.com]

The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. (Summary by Geis et al., 2013; pubmed:24052401 and Riemersma et al., 2015; pubmed:25934851 ). [flybase.org]

[…] al.239 evaluated the indications of gastrostomy placement in paediatric patients with neuromuscular disorders and noted that this procedure leads to a reduction of the frequency of chest infec- tions and has a good impact on feeding difficulties and malnutrition [cyberleninka.org]

At ten months of age, she died of a pneumonia. Parents declined an autopsy examination. [scielo.br]

Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death. [ncbi.nlm.nih.gov]

Diagnosis MH presents with tachycardia, muscle rigidity (caused by muscle contracture that may progress to rigor or death), increased muscle permeability (resulting in increased serum levels of K , Ca , and Na and muscle edema), excessive release of myo-globulin [what-when-how.com]

Cardiomyopathies associated with congenital myopathies Cardiomyopathy Myopathy Hypertrophic Nemaline myopathy Multicore myopathy Cytoplasmic body myopathy Desminopathy Myofibrillar myopathy Danon’s disease Dilated Nemaline myopathy CentronucIear myopathy [slideshare.net]

Nemaline myopathy Nemaline myopathy. Clusters of rod bodies. Gomori trichrome. Nemaline myopathy Nemaline myopathy. EM. [neuropathology-web.org]

MEGF10 Myopathy, centronuclear BIN1 Myopathy, centronuclear DNM2 Myopathy, COL6A6 related COL6A6 Myopathy, desmin related, associated with mutation in the CRYAB gene CRYAB Myopathy, distal type 1 MYH7 Myopathy, distal type 4 FLNC Myopathy, distal with [centogene.com]

Several phenotypes can occur: Miyoshi myopathy, anterior tibial myopathy, LGMD, and an axial myopathy. [emedicine.medscape.com]

Ullrich myopathy and Bethlem myopathy are allelic disorders. [what-when-how.com]

Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. [ncbi.nlm.nih.gov]

Congenital Muscular Dystrophies MDCs are autosomal recessive disorders characterized by muscle weakness in early infancy. [what-when-how.com]

Severe infantile (congenital) form Benign congenital form Adult onset form •Muscle weakness and hypotonia at birth. [slideshare.net]

In many congenital muscular dystrophy sub types, muscle weakness can increase with time and can lead to respiratory problems. [mobilephysiotherapyclinic.in]

DISCUSSION We describe two female siblings who presented in utero with severe hydrocephalus and who were noted to have diffuse weakness, muscle hypotonia, and joint contractures at birth. This clinical picture led to a suspicion of CMD in Case 1. [scielo.br]

[…] adult-onset ALS UBQLN2 Amyotrophy hereditary neuralgic SEPT9 Angelman syndrome chr. 15q11 Angelman syndrome UBE3A Angelman-like syndrome CDKL5 Angelman-like syndrome MECP2 Arts syndrome PRPS1 Asperger syndrome susceptibility X-linked type 2 NLGN3 Ataxia and muscle [centogene.com]

The onset was within the first two years of life with muscle hypotonia. The gross motor development, al- though with delay, was achieved in most of the patients, who maintain the deambulation for a long period. [cyberleninka.org]

disorders SYN1 Epileptic encephalopathy, childhood-onset CHD2 Epileptic encephalopathy, Lennox-Gastaut type MAPK10 Episodic ataxia type 1 KCNA1 Episodic ataxia type 2 CACNA1A Episodic ataxia type 5 CACNB4 Episodic ataxia type 6 SLC1A3 Episodic pain syndrome [centogene.com]

Disorders 3 Epileptic encephalopathy, childhood-onset 6 Epileptic encephalopathy, early infantile, 1 6 Epileptic Encephalopathy, Early Infantile, 10 5 Epileptic Encephalopathy, Early Infantile, 11 7 Epileptic Encephalopathy, Early Infantile, 12 4 Epileptic [preventiongenetics.com]

Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive [ncbi.nlm.nih.gov]

Autoimmune diseases Seizures and seizure disorders Abnormal electrical activity in the brain can cause seizures. Epilepsy is a condition in which a person has repeated seizures. [verywell.com]

Fukuyama CMD  severely retarded, had many seizures  marked contractures of the limbs.  too weak to support her own weight.  disease was nonprogressive.  Her two brothers also had the same illness 65. [slideshare.net]

[…] plus type 1 SCN1B Generalized epilepsy with febrile seizures plus type 2 SCN1A Generalized epilepsy with febrile seizures plus type 3 GABRG2 Generalized epilepsy with febrile seizures plus type 7 SCN9A Gerstmann-Straussler disease PRNP Giant axonal neuropathy [centogene.com]

She currently has failure to thrive, profound developmental delay, and occasional seizures. Case 2. This female infant was the index case's sister and was 6 ½ years her older. [scielo.br]

This volume deals with brain development malformations of the central nervous system, showcasing a unique approach that furthers research through systematic integration of exciting new developments from fields including molecular genetics, neuroimaging [books.google.de]

[…] easily glycogen depletion fast in fast motor units red oxygen binding pigment -moves oxygen from blood to mitochondria inside the cell GOLGI TENDON REFLEX @ TENSION -elastic elements: reacts to stretch AND contraction -links muscle and tendon, series - excites [quizlet.com]

Myotonic Dystrophy is an autosomal dominant muscular dystrophy characterized by weakness and stiffness, more pronounced in facial and distal muscles, and by increased muscle excitability. [neuropathology-web.org]

In 2004, Muntoni and Voit9 revised the CMDs in a work with the following title: "The congenital muscular dystrophies in 2004: a century of exciting progress". [cyberleninka.org]

mental retardation, congenital muscular dystrophy, and death usually in the first years of life. [ncbi.nlm.nih.gov]

It is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. [flybase.org]

mental retardation, and death usually in the first years of life. [genecards.org]

Patients have brain malformations, profound mental retardation, and ophthalmo-logic abnormalities. The disease starts before the age of 9 months, and the patients never learn to walk. They die by the age of 20. [what-when-how.com]

[…] epileptic encephalopathy type 21 NECAP1 Early infantile epileptic encephalopathy type 23 DOCK7 Early infantile epileptic encephalopathy type 24 HCN1 Early infantile epileptic encephalopathy type 25 SLC13A5 Early infantile epileptic encephalopathy type [centogene.com]

Encephalopathy, Early Infantile, 19 1 Epileptic Encephalopathy, Early Infantile, 2 8 Epileptic Encephalopathy, Early Infantile, 21 1 Epileptic Encephalopathy, Early Infantile, 23 1 Epileptic Encephalopathy, Early Infantile, 24 5 Epileptic Encephalopathy [preventiongenetics.com]

Ethylmalonic Encephalopathy, Familial, with Neuroserpin Inclusion Bodies Enhanced S-cone Syndrome Enhanced S-cone Syndrome, Retinitis Pigmentosa Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Dystrophica, Localisata Variant Epidermolysis Bullosa [sequencing.com]

[…] stationary night blindness Isolated Klippel-Feil syndrome Leber congenital amaurosis Muscle-eye-brain disease with bilateral multicystic leucodystrophy Oguchi disease Angelman syndrome Atypical Gaucher disease due to saposin C deficiency CLN11 disease Encephalopathy [csbg.cnb.csic.es]

Androgen (DHEA) Secretion Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II Deficiency of Factor XIII, A Subunit Dejerine-Sottas Neuropathy Delayed Sleep Phase Syndrome Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis [sequencing.com]

Episodic ataxia type 2 CACNA1A Episodic ataxia type 5 CACNB4 Episodic ataxia type 6 SLC1A3 Episodic pain syndrome type 2, familial SCN10A Episodic pain syndrome type 3, familial SCN11A Erythermalgia, primary SCN9A Ethylmalonic encephalopathy ETHE1 Facial paresis [centogene.com]

Charcot-Marie-Tooth Disease Type 2F 5 Charcot-Marie-Tooth Disease Type 2I 5 Charcot-Marie-Tooth Disease Type 2J 5 Charcot-Marie-Tooth Disease Type 2K 4 Charcot-Marie-Tooth Disease, Axonal, Type 2O 5 Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis [preventiongenetics.com]